BRCA2 c.8827C > T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer
ConclusionIn this study, we identified aBRCA2 c.8827C>T nonsense mutation with a truncated BRCA2 protein in a consanguineous Chinese Han family, suggesting individuals with this mutation should be regularly screened for malignancies such as breast, prostate, and ovarian cancer. Our study verified the function of thisBRCA2 mutation site and provided a new target for the precise treatment of such patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 19, 2020 Category: Genetics & Stem Cells Authors: Jiangfen Wang, Jiayue Qin, Chunfang Xi, Yafen Zhang Tags: ORIGINAL ARTICLE Source Type: research

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
ConclusionsWe discovered novel DNA variants, impairing the function of genes indispensable to build a proper functioning brain. Our study expands the mutational spectra of known MCPH genes and also provides supporting evidence to the pathogenicity of previously reported mutations. These novel DNA variants will be helpful for the clinicians and geneticists for establishing reliable diagnostic strategies for MCPH families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 16, 2020 Category: Genetics & Stem Cells Authors: Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Tags: ORIGINAL ARTICLE Source Type: research

Adult ‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report
ConclusionsThis patient with a homozygousGALC mutation expands the clinical presentation and characteristics of adult ‐onset KD, as indicated by grey matter atrophy without abnormal white matter signals. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 16, 2020 Category: Genetics & Stem Cells Authors: Zhou Xia, Yin Wenwen, Yu Xianfeng, Hu Panpan, Zhu Xiaoqun, Sun Zhongwu Tags: CLINICAL REPORT Source Type: research

Evaluation of a six ‐dye multiplex composed of 27 markers for forensic analysis and databasing
ConclusionThe results indicated that the Investigator® 26plex QS Kit is a robust, reliable, and suitable tool for forensic analysis and databasing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 15, 2020 Category: Genetics & Stem Cells Authors: Shuangshuang Wang, Feng Song, Mingkun Xie, Ke Zhang, Bowen Xie, Zhanglong Huang, Haibo Luo Tags: ORIGINAL ARTICLE Source Type: research

Development of an immune ‐related prognostic model for pediatric acute lymphoblastic leukemia patients
ConclusionsOur prognostic risk model can effectively divide pediatric ALL patients into high ‐risk and low‐risk groups, which may help predict clinical prognosis and optimize individualized treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 14, 2020 Category: Genetics & Stem Cells Authors: Xi Quan, Nan Zhang, Ying Chen, Hanqing Zeng, Jianchuan Deng Tags: ORIGINAL ARTICLE Source Type: research

Identification of histone malonylation in the human fetal brain and implications for diabetes ‐induced neural tube defects
ConclusionOur results present a comprehensive map of histone malonylation in the human fetal brain. Furthermore, we provide experimental evidence supporting a relationship between histone malonylation and NTDs caused by high glucose ‐induced diabetes. These findings offer new insights into the pathological role of histone modifications in human NTDs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 14, 2020 Category: Genetics & Stem Cells Authors: Qin Zhang, Tanxi Cai, Zonghui Xiao, Dan Li, Chunlei Wan, Xiaodai Cui, Baoling Bai Tags: ORIGINAL ARTICLE Source Type: research

Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age ‐related macular degeneration
We aimed to determine the frequency of the genotypes of CETP(rs5882; rs708272; rs3764261; rs1800775; rs2303790), RAGE (rs1800624; rs1800625) and CYP4F2 (rs1558139) in patients (pts) with atrophic age ‐related macular degeneration (AMD). We identified 2 polymorphisms with higher risk of atrophic AMD (rs5882 and rs1800625) and one protective polymorphism (rs3764261). AbstractBackgroundAge ‐related macular degeneration (AMD) is the leading cause of blindness in the elderly individuals. The etiology of AMD includes environmental and genetic factors.MethodsWe aimed to determine the association betweenCETP (rs5882; rs708272;...
Source: Molecular Genetics & Genomic Medicine - July 13, 2020 Category: Genetics & Stem Cells Authors: Rasa Liutkeviciene, Alvita Vilkeviciute, Loresa Kriauciuniene, Mantas Banevicius, Brigita Budiene, Daiva Stanislovaitiene, Reda Zemaitiene, Vytenis P. Deltuva Tags: ORIGINAL ARTICLE Source Type: research

Parental genetic knowledge and attitudes toward childhood genetic testing for inherited eye diseases
ConclusionThis study illustrated that more factual genetic knowledge was considered as an indicator for the favorable attitudes. Therefore, the effective strategies should be taken to provide the correct knowledge of genetics and genetic testing to parents, especially those who need to make an informed decision thereon to undertake childhood genetic testing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 12, 2020 Category: Genetics & Stem Cells Authors: Yu Zhang, Sijian Huang, Huiming Xiao, Xiaoyan Ding Tags: ORIGINAL ARTICLE Source Type: research

Genetic profile of non ‐small cell lung cancer (NSCLC): A hospital‐based survey in Jinhua
ConclusionMore unique features of cancer driver genes in Chinese NSCLC were identified by next ‐generation sequencing. These findings highlighted that it is necessary to carry out targeted detection according to different clinical features for NSCLC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 11, 2020 Category: Genetics & Stem Cells Authors: Xianguo Chen, Bo Xu, Qiang Li, Xiaoyi Xu, Xianshuai Li, Xia You, Zhaonan Yu Tags: ORIGINAL ARTICLE Source Type: research

Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature
ConclusionOur results reveal that affected children with the novel pathogenetic mutations p.C242R and p.S445* in theMCM8 gene are characterized by POI, short stature, cancer susceptibility, and genomic instability. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 10, 2020 Category: Genetics & Stem Cells Authors: Fei Wang, Sheng Guo, Pin Li Tags: ORIGINAL ARTICLE Source Type: research

Identification of paternal germline mosaicism by MicroSeq and targeted next ‐generation sequencing
ConclusionMicroSeq is a valuable tool to identify the allele source of de novo mutations in a single patient. TNGS can be used to assess the mosaic ratios of known sites. We provided a systematic algorithm to detect germinal mosaicism in a single patient. This algorithm may have implications for genetic and reproductive counseling on germline mosaicism. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 8, 2020 Category: Genetics & Stem Cells Authors: Congling Dai, Dehua Cheng, Weina Li, Sicong Zeng, Guangxiu Lu, Qianjun Zhang Tags: ORIGINAL ARTICLE Source Type: research

Paternal gender specificity and mild phenotypes in Charcot –Marie–Tooth type 1A patients with de novo 17p12 rearrangements
ConclusionThis study suggests that de novo CMT1A patients tend to have milder symptoms and that the paternal ages at child births in the de novo group are higher than those of the non ‐de novo group. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 8, 2020 Category: Genetics & Stem Cells Authors: Ah J. Lee, Da E. Nam, Yu J. Choi, Seung W. Noh, Soo H. Nam, Hye J. Lee, Seung J. Kim, Gyun J. Song, Byung ‐Ok Choi, Ki W. Chung Tags: ORIGINAL ARTICLE Source Type: research

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
We analyzed seven newly homozygous spinocerebellar ataxia type 3 patients from five families and 14 homozygotes reported previously. The AAO was significantly inversely correlated with both the large and small expanded CAG repeats (r = −.7682,p 
Source: Molecular Genetics & Genomic Medicine - July 8, 2020 Category: Genetics & Stem Cells Authors: Quan-Fu Li, Hao ‐Ling Cheng, Lu Yang, Yin Ma, Jing‐Jing Zhao, Yi Dong, Zhi‐Ying Wu Tags: ORIGINAL ARTICLE Source Type: research

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling
ConclusionWe present a novel likely pathogenic variant (c.11662C>T) inDNAH11 that has manifested in heterotaxy with variability in phenotypes for subsequent pregnancies of common parents. This report demonstrates that sibship illustrates potential variability in phenotypes associated with the same pathogenic variants within a family and highlights the difficulty in genetic counseling due to the variation in clinical presentation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 6, 2020 Category: Genetics & Stem Cells Authors: Amirpouyan Namavarian, Anas Eid, Elaine Suk ‐Ying Goh, Varsha Thakur Tags: CLINICAL REPORT Source Type: research

Spectrum of gene mutations identified by targeted next ‐generation sequencing in Chinese leukemia patients
ConclusionOur study provided a map of gene mutations in Chinese patients with leukemia and gave insights into the molecular pathogenesis of leukemia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 6, 2020 Category: Genetics & Stem Cells Authors: Hongxia Yao, Congming Wu, Yueqing Chen, Li Guo, Wenting Chen, Yanping Pan, Xiangjun Fu, Guyun Wang, Yipeng Ding Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
Molecular Genetics& Genomic Medicine, Volume 8, Issue 7, July 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 5, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith –Wiedemann syndrome
ConclusionThis is the first report on BWS ‐discordant twins with methylation analyses extended to extraembryonic tissues. The results suggest that caution is required when attempting prenatal diagnosis in similar cases. Although the causative mechanism underlying LOM remains undiscovered, the XCI pattern and mosaic LOM suggest that both t winning and LOM/MLID occurred after XCI commitment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 5, 2020 Category: Genetics & Stem Cells Authors: Laura Fontana, Maria F. Bedeschi, Giulia A. Cagnoli, Jole Costanza, Nicola Persico, Silvana Gangi, Matteo Porro, Paola F. Ajmone, Patrizia Colapietro, Carlo Santaniello, Milena Crippa, Silvia M. Sirchia, Monica Miozzo, Silvia Tabano Tags: ORIGINAL ARTICLE Source Type: research

Aberrant X chromosomal rearrangement through multi ‐step template switching during sister chromatid formation in a patient with severe hemophilia A
ConclusionWe identified the aberrant X chromosome with a splitF8 due to a multi ‐step rearrangement in a patient with severe HA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 4, 2020 Category: Genetics & Stem Cells Authors: Mahiru Tokoro, Shogo Tamura, Nobuaki Suzuki, Misaki Kakihara, Yuna Hattori, Koya Odaira, Sachiko Suzuki, Akira Takagi, Akira Katsumi, Fumihiko Hayakawa, Shuichi Okamoto, Atsuo Suzuki, Takeshi Kanematsu, Tadashi Matsushita, Tetsuhito Kojima Tags: ORIGINAL ARTICLE Source Type: research

The expression and regulation of HOX genes and membrane proteins among different cytogenetic groups of acute myeloid leukemia
ConclusionOur work may provide novel insights to the molecular characteristics and classification between AML with different cytogenetics. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 1, 2020 Category: Genetics & Stem Cells Authors: Huili Wang, Sheng ‐Yan Lin, Fei‐Fei Hu, An‐Yuan Guo, Hui Hu Tags: ORIGINAL ARTICLE Source Type: research

Determining the best candidates for next ‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy
ConclusionNext ‐generation sequencing‐based targeted testing is an effective diagnostic test, with 30%–40% comparable diagnostic yield. Patients with earlier seizure onset and family history of epilepsy were the best candidates for testing. For pediatric patients with early‐onset epilepsy, genetic diagnosi s is important for accurate prognosis and treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 30, 2020 Category: Genetics & Stem Cells Authors: Jiwon Lee, Chung Lee, Chang ‐Seok Ki, Jeehun Lee Tags: ORIGINAL ARTICLE Source Type: research

Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis
ConclusionWe are confident that this novel mutation (NM_001098668.4: c.619A>T; NP_001092138.1: p.N207Y) inSFTPA2 is the genetic mutation of the IPF family. Our study not only confirms the importance of SFTPA2 in IPF but also expands the spectrum ofSFTPA2 mutations and contributes to the genetic diagnosis and counseling of IPF patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 29, 2020 Category: Genetics & Stem Cells Authors: Lv Liu, Jieli Qin, Ting Guo, Ping Chen, Ruoyun Ouyang, Hong Peng, Hong Luo Tags: ORIGINAL ARTICLE Source Type: research

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy
ConclusionsMA can be diagnosed using newborn screening; however, negative results do not exclude the possibility of disease. Metabolic screening for differential diagnosis of infantile DCMP is recommended to rule out rare, but manageable, metabolic cardiomyopathies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 29, 2020 Category: Genetics & Stem Cells Authors: Seung Hoon Lee, Jung Min Ko, Mi ‐Kyoung Song, Junghan Song, Kyung Sun Park Tags: ORIGINAL ARTICLE Source Type: research

Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community
Our data identified and validated the association of SNTG2, TRAF3IP2, and ITGA6 with osteoporotic vertebral fracture (VF) in elderly women, independently of bone mineral density. These results suggest that these transcripts have potential clinical significance and may help to explain the molecular mechanisms and biological functions of VF. AbstractBackgroundVertebral fractures (VFs) are the most common clinical manifestation of osteoporosis associated with high morbimortality. A personal/familiar history of fractures increases the risk of fractures. The purpose of this study is to identify possible molecular markers associ...
Source: Molecular Genetics & Genomic Medicine - June 29, 2020 Category: Genetics & Stem Cells Authors: Levi H. Jales Neto, Zofia Wicik, Georgea H. F. Torres, Liliam Takayama, Val éria F. Caparbo, Neuza H. M. Lopes, Alexandre C. Pereira, Rosa M. R. Pereira Tags: ORIGINAL ARTICLE Source Type: research

Expanding the phenotype of STRA6 ‐related disorder to include left ventricular non‐compaction
ConclusionThis case adds to the phenotypic spectrum of MCOPS9, supporting the association with LVNC, and the presence of interruption of aortic arch further demonstrates the variability of the cardiac malformations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2020 Category: Genetics & Stem Cells Authors: Hairui Sun, Shaomei Yu, Xiaoxue Zhou, Lu Han, Hongjia Zhang, Yihua He Tags: CLINICAL REPORT Source Type: research

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports
ConclusionOur findings expand the mutation spectrum of variants that have been shown to be associated with nonsyndromic familial TAA/D. This study demonstrates the importance of a comprehensive clinical and genetic evaluation aiming at early diagnosis and intervention. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2020 Category: Genetics & Stem Cells Authors: Anna Keravnou, Evy Bashiardes, Vassilis Barberis, Kyriaki Michailidou, Marinos Soteriou, George A. Tanteles, Marios A. Cariolou Tags: CLINICAL REPORT Source Type: research

SHORT syndrome in two Chinese girls: A case report and review of the literature
ConclusionWe identified two de novo heterozygous mutations inPIK3R1 as the cause of SHORT syndrome in two Chinese girls. Additionally, in terms of diabetes control, metformin works well in the early treatment stage. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2020 Category: Genetics & Stem Cells Authors: Yanhong Zhang, Baolan Ji, Jinsheng Li, Yanying Li, Mei Zhang, Bo Ban Tags: ORIGINAL ARTICLE Source Type: research

Interpretation challenges of novel dual ‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia
ConclusionThe novel dual ‐class c.3593A>C variant inPOLR3A causes an amino acid substitution and complex disruption of splicing. Our report supports the need to investigate variants near splice junctions for proper interpretation. Current interpretation guidelines need to address best practices for inclusion of predicted or measured transcriptional disruption pending functional activity or reliable transcript abundance estimates. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2020 Category: Genetics & Stem Cells Authors: Joel A. Morales ‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee Tags: ORIGINAL ARTICLE Source Type: research

TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence
ConclusionWe presented for the first time the p.Arg337His frequency among individuals unselected for any disease from a subset of the S ão Paulo State, the most populous in Brazil. The allele discrimination assay we presented here has proven to be a reliable and efficient method for high‐throughput genotyping. ACT was found to be a good sentinel cancer to suppose p.Arg337His presence in our region. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 26, 2020 Category: Genetics & Stem Cells Authors: Ana L. Seidinger, Isabel P. Caminha, Maria J. Mastellaro, Carmen S. Gabetta, Alexandre E. Nowill, Vit ória R. P. Pinheiro, José A. Yunes Tags: ORIGINAL ARTICLE Source Type: research

Investigation on the role of biallelic variants in VEGF ‐C found in a patient affected by Milroy‐like lymphedema
ConclusionsOur findings reveal an interesting case in which biallelic variants inVEGF ‐C are found in a patient with Milroy ‐like lymphedema. These data expand our understanding of the etiology of congenital Milroy‐like lymphedema. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 25, 2020 Category: Genetics & Stem Cells Authors: Sylvain Mukenge, Sawan K. Jha, Marco Catena, Elena Manara, Veli ‐Matti Leppänen, Elisa Lenti, Daniela Negrini, Matteo Bertelli, Andrea Brendolan, Michael Jeltsch, Luca Aldrighetti Tags: ORIGINAL ARTICLE Source Type: research

Systematic summarization of the expression profiles and prognostic roles of the dishevelled gene family in hepatocellular carcinoma
ConclusionIn summary, DVL2 and DVL3 are highly expressed in HCC, and DVL1 and DVL3 are related to a poor prognosis, which might be used as candidate targets for targeted therapy and reliable prognostic biomarkers in HCC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 25, 2020 Category: Genetics & Stem Cells Authors: Jie Mei, Xuejing Yang, Dandan Xia, Weijian Zhou, Dingyi Gu, Huiyu Wang, Chaoying Liu Tags: ORIGINAL ARTICLE Source Type: research

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au ‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities
ConclusionThe successful molecular diagnosis of the presently reported patient illustrates the diagnostic utility of the SAVNet analysis as an innovative way of implementing an integrated exome ‐transcriptome analysis in clinical settings. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 25, 2020 Category: Genetics & Stem Cells Authors: Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe ‐Hatano, Kenji Kurosawa, Kenjiro Kosaki Tags: CLINICAL REPORT Source Type: research

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
ConclusionOur study reveals the pathogenesis of a novelCOL1A1 splicing pathogenic variant c.3814+1G>T in a Chinese family with OI I. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Yaxin Han, Dongming Wang, Jinli Guo, Qiuhong Xiong, Ping Li, Yong ‐An Zhou, Bin Zhao Tags: ORIGINAL ARTICLE Source Type: research

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism
ConclusionThese results indicated that the fetuses were genetically monozygotic twins and their different degrees of mosaicism may have resulted in different genital phenotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Ken Takahashi, Taisuke Sato, Miyuki Nishiyama, Aiko Sasaki, Kosuke Taniguchi, Ohsuke Migita, Seiji Wada, Kenichiro Hata, Haruhiko Sago Tags: CLINICAL REPORT Source Type: research

A 17q24.3 duplication identified in a large Chinese family with brachydactyly ‐anonychia
ConclusionIn summary, our findings suggest that 17q24.3 duplication is the genetic cause of brachydactyly ‐anonychia in this family, which support the prior report that brachydactyly‐anonychia is associated with 17q24.3 duplication, and further indicates the pathogenic correlation between BD and CNVs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Mohan Liu, Xueguang Zhang, Hongqian Liu, Ying Shen Tags: CLINICAL REPORT Source Type: research

FARP ‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family
ConclusionThese results represent a paradigmatic example of the heuristic potential of genetic markers in predicting treatment response and possibly in supporting the targeted prescription of specific early intervention approaches. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Francesca Cucinotta, Arianna Ricciardello, Laura Turriziani, Giorgia Calabrese, Marilena Briguglio, Maria Boncoddo, Fabiana Bellomo, Pasquale Tomaiuolo, Silvia Martines, Marianna Bruschetta, Francesca La Fauci Belponer, Tiziana Di Bella, Costa Tags: ORIGINAL ARTICLE Source Type: research

Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan
ConclusionIt can be concluded that bothHAMP andHFE gene mutations show high frequency in beta thalassemia major patients and mean significant association between mutations and high serum ferritin level of beta thalassemia major patients but the nonsignificant results of Odd ratios showed that both mutations do not act as major risk factor in beta thalassemia major. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Maryam Shah, Lubna Danish, Najeeb U. Khan, Fakhar Zaman, Muhammad Ismail, Mehfooz Hussain, Ruqiya Pervaiz, Aqib Iqbal Tags: ORIGINAL ARTICLE Source Type: research

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
ConclusionOur clinical and molecular genetic findings suggest thatGABRE is a likely candidate gene for epilepsy. Nevertheless, functional studies are necessary to better understand pathogenicity of theGABRE‐mutations and their associations with epileptic phenotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Fenja Markus, Chlo é Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon Slegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owcz Tags: ORIGINAL ARTICLE Source Type: research

The study of METTL14, ALKBH5, and YTHDF2 in peripheral blood mononuclear cells from systemic lupus erythematosus
This study was aimed to explore the mRNA expression of m6A “writers” (METTL3,MTEEL14, andWTAP), “erasers” (FTO andALKBH5), and “readers” (YTHDF2) in peripheral blood mononuclear cells (PBMCs) from systemic lupus erythematosus (SLE) patients and investigate the relation between their expressions with clinical features.MethodsIn all, 54 SLE patients and 42 healthy controls (HC) were included in the current study. Quantitative reverse transcription ‐polymerase chain reaction (qRT‐PCR) was used to investigate the mRNA expression of m6A “writers,” “erasers,” and &l...
Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Qing Luo, Jiayue Rao, Lu Zhang, Biqi Fu, Yang Guo, Zikun Huang, Junming Li Tags: ORIGINAL ARTICLE Source Type: research

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss
ConclusionExon 9 ofCOL11A1 is alternatively expressed and disease causing changes affecting only this exon modify the phenotype resulting from biallelicCOL11A1 disease ‐associated variants and, instead of fibrochondrogenesis, produce a form of Stickler syndrome with severe hearing loss. Disease phenotypes from de novo pathogenic variants can be modified by inherited recessive variants on the other allele. This highlights the need for functional and family analys is to confirm the mode of inheritance inCOL11A1‐related disorders, particularly for those variants that may alter normal pre‐mRNA splicing. (Source: Molecula...
Source: Molecular Genetics & Genomic Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Thomas Nixon, Allan J. Richards, Adrian Lomas, Stephen Abbs, Pradeep Vasudevan, Annie McNinch, Philip Alexander, Martin P. Snead Tags: ORIGINAL ARTICLE Source Type: research

Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech population
The frequency of most T2DM ‐associated genotypes differed significantly between the Czech majority population and Roma. Roma subjects have in mean increased numbers of risky alleles. Likely, genes are in background of the increased T2DM incidence in this ethnic group. AbstractBackgroundThe Czech governmental study suggests up to a 25% higher prevalence of type 2 diabetes mellitus (T2DM) in the Roma population than within the majority population. It is not known whether and to what extent these differences have a genetic background.MethodsTo analyze whether the frequencies of the alleles/genotypes of theFTO,TCF7L2,CDKN2A/...
Source: Molecular Genetics & Genomic Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Jaroslav A. Hub áček, Lenka Šedová, Věra Olišarová, Věra Adámková, Valérie Tóthová Tags: ORIGINAL ARTICLE Source Type: research

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C > T/c.889C > T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene
ConclusionsWe suggest that the mild phenotype might arise from the partially preserved function of the mutant enzyme (p.Pro213Leu), suggesting the genotype ‐phenotype correlation in this case. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Karolina Pierzynowska, Arkadiusz Ma ński, Monika Limanówka, Jolanta Wierzba, Lidia Gaffke, Paulina Anikiej, Grzegorz Węgrzyn Tags: CLINICAL REPORT Source Type: research

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form
ConclusionThis report contributes to expand the clinical and genetic spectrum ofMYH2 myopathies and to increase the awareness of these very rare diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli Tags: CLINICAL REPORT Source Type: research

Disrupted minor intron splicing is prevalent in Mendelian disorders
ConclusionThese findings highlight that disrupted minor intron splicing has a broader impact on human diseases than previously appreciated. The hope is that this knowledge will aid in the development of therapeutic strategies that incorporate the minor intron splicing pathway. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Anouk M. Olthof, Jeffrey S. Rasmussen, Philippe M. Campeau, Rahul N. Kanadia Tags: ORIGINAL ARTICLE Source Type: research

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology
ConclusionOur study demonstrates that ESC yields a significant clinical value for ART patients in China. In addition, by estimating the yields of the ECS panel, we identify genes that are appropriate for screening the Han population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Yanping Xi, Guangquan Chen, Caixia Lei, Junping Wu, Shuo Zhang, Min Xiao, Wenbi Zhang, Yueping Zhang, Xiaoxi Sun Tags: ORIGINAL ARTICLE Source Type: research

Cytogenetic and FISH analysis of 93 multiple myeloma Moroccan patients
ConclusionThis study compares the results of cytogenetic analysis of chromosomal abnormalities in the Moroccan population with other countries. ½ patient showed at least one type of molecular genetic abnormalities. Therefore, the introducing of the cytogenetic analysis is obligatory in the diagnosis of multiple myeloma. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Hasna Hamdaoui, Oumaima Benlarroubia, Oum Kaltoum Ait Boujmia, Hossein Mossafa, Karim Ouldim, Aziza Belkhayat, Imane Smyej, Houda Benrahma, Hind Dehbi, Fatima Chegdani Tags: ORIGINAL ARTICLE Source Type: research

Genetic determinants of circulating galectin ‐3 levels in patients with coronary artery disease
Galectin ‐3 levels significantly correlated with leukocyte counts, C‐reactive protein, soluble intercellular adhesion molecule‐1, and matrix metalloproteinase 9 levels while LGALS3 SNPs rs2274273 and rs4644 genotypes independently associated with and contributed to 20.8% of galectin‐3 levels in patie nts with coronary artery disease. The absence of a significant association between LGALS3 gene variants and the inflammation markers levels suggested that it should be cautious when galectin‐3 was used as a therapeutic target for chronic inflammatory disorders, such as coronary artery disease. AbstractBackgroundGalec...
Source: Molecular Genetics & Genomic Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Yu ‐Huang Liao, Ming‐Sheng Teng, Jyh‐Ming J. Juang, Fu‐Tien Chiang, Leay‐Kiaw Er, Semon Wu, Yu‐Lin Ko Tags: ORIGINAL ARTICLE Source Type: research

Deleterious mis ‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five
ConclusionWe characterized a novel likely pathogenic germline variant in intron five ofSTK11 associated with Peutz –Jeghers syndrome. The study highlights RNA‐Seq as a useful supplement in hereditary cancer predisposition testing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 22, 2020 Category: Genetics & Stem Cells Authors: Thorkild Terkelsen, Ole H. Larsen, S øren Vang, Uffe B. Jensen, Friedrik Wikman Tags: ORIGINAL ARTICLE Source Type: research

POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East
ConclusionPOLE andPOLD1 exonuclease domain pathogenic variants frequency in CRC cases was very low and these exonuclease domain pathogenic variants might be rare causative events of CRC in the Middle East.POLE andPOLD1 can be included in multi ‐gene panels to screen CRC patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 21, 2020 Category: Genetics & Stem Cells Authors: Abdul K. Siraj, Rong Bu, Kaleem Iqbal, Sandeep K. Parvathareddy, Tariq Masoodi, Nabil Siraj, Maha Al ‐Rasheed, Yan Kong, Saeeda O. Ahmed, Khadija A. S. Al‐Obaisi, Ingrid G. Victoria, Maham Arshad, Fouad Al‐Dayel, Alaa Abduljabbar, Luai Tags: ORIGINAL ARTICLE Source Type: research

Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss
ConclusionsWe found 3.9% (5/128) of sporadic NSHL is caused by de novo WFS1 mutations. Our data provide that the de novo p.E864K mutation is first identified and de novo p.A684V mutation is likely to be a mutational hot spot inWFS1. It is the first study to highlight thatWFS1 gene with the two de novo mutations has been indicated to classify the distinct hearing impairment phenotypes. Furthermore, de novo p.A684V serves as aWFS1 mutational hot spot that was found in the Chinese population with sporadic childhood NSHL, and our study also provides pointers toward the necessity for sequencing of asymptomatic parents of a spor...
Source: Molecular Genetics & Genomic Medicine - June 21, 2020 Category: Genetics & Stem Cells Authors: Jing Guan, Hongyang Wang, Lan Lan, Yusen Wu, Guohui Chen, Cui Zhao, Dayong Wang, Qiuju Wang Tags: ORIGINAL ARTICLE Source Type: research

CHD7 missense variants and clinical characteristics of Chinese males with infertility
ConclusionsThere may be a relationship between theCHD7 gene missense variants and male infertility. These variants are easier to find in patients with azoospermia and severe oligospermia whose testosterone levels are decreased. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 21, 2020 Category: Genetics & Stem Cells Authors: Leilei Li, Ruixue Wang, Yang Yu, Hongguo Zhang, Yuting Jiang, Xiao Yang, Ruizhi Liu Tags: ORIGINAL ARTICLE Source Type: research