FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
ConclusionNewborn screening, designed to screen for specific treatable congenital metabolic diseases, may also lead to the diagnosis of additional, very rare metabolic disorders such asFLAD1 deficiency. The case further illustrates that even milder forms ofFLAD1 deficiency are detectable in the asymptomatic state by newborn screening. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 7, 2019 Category: Genetics & Stem Cells Authors: Kai Muru, Karit Reinson, Kadi K ünnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap Tags: CLINICAL REPORT Source Type: research

Association of single nucleotide polymorphisms of miRNAs involved in the GLUT4 pathway in T2DM in a Chinese population
A total of 784 subjects with T2DM and 846 nondiabetic subjects were enrolled and 12 single nucleotide polymorphisms (SNPs) in miRNAs (rs10459194 in miR ‐135a‐2, rs10993081 and rs7045890 in let‐7d, rs2296616 in miR‐107, rs2402959 and rs6965643 in miR‐96, rs24168 in miR‐29a, rs3745453 in miR‐23a, rs4636297 in miR‐126, rs8089787 and rs9948906 in miR‐133a and rs999885 in miR‐106b) involved in the GLUT4 pathway were genotyped using t he MassArray method in a Chinese population. Our data revealed that rs2402959 in miR‐96 and rs3745453 in miR‐23a in the miRNAs involved in the GLUT4 pathway were associated ...
Source: Molecular Genetics & Genomic Medicine - August 6, 2019 Category: Genetics & Stem Cells Authors: Yiping Li, Chuanyin Li, Man Yang, Li Shi, Wenyu Tao, Keyu Shen, Xianli Li, Xiaoling Wang, Ying Yang, Yufeng Yao Tags: ORIGINAL ARTICLE Source Type: research

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population
ConclusionsThe heterogeneity among Hispanic groups demonstrated in previous literature and by this study reflects the complexity of ethnicity and suggests that a more granular categorization is needed, one based on ancestry and migration history rather than primary language. Overall, we have determined that there are statistically significant differences inCYP2D6 allele frequencies in the distinct racial and ethnic populations of South Florida, demonstrating a unique genetic makeup within South Florida. However, overall, the frequencies of Poor Metabolizer, Normal Metabolizer, Intermediate Metabolizer, and Ultrarapid Metab...
Source: Molecular Genetics & Genomic Medicine - August 6, 2019 Category: Genetics & Stem Cells Authors: Daria Salyakina, Sharmeen Roy, Weize Wang, Mailin Oliva, Rohan Akhouri, Ileana Sotto, Nicole Mulas, Rafaela Solano, Jos é R. Fernández, Stephanie Sanchez, Uzma Shamshad, Chad Perlyn, Jennifer McCafferty‐Fernandez Tags: ORIGINAL ARTICLE Source Type: research

Clinical delineation of 18q11 ‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
ConclusionThe detailed clinical delineation of the proximal 18q deletions identified in this study should contribute to better understanding of the genotype –phenotype correlations and better long‐term care of patients with this rare syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 6, 2019 Category: Genetics & Stem Cells Authors: Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim ‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath Tags: ORIGINAL ARTICLE Source Type: research

Three GLI2 mutations combined potentially underlie non ‐syndromic cleft lip with or without cleft palate in a Chinese pedigree
ConclusionOur results further demonstrate thatGLI2 variants play a role in the pathogenesis of NSCL/P, and the three rare missense mutations combined are probably the potential disease ‐causing variants in this family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 5, 2019 Category: Genetics & Stem Cells Authors: Peiqi Meng, Huaxiang Zhao, Wenbin Huang, Yunfan Zhang, Wenjie Zhong, Mengqi Zhang, Peizeng Jia, Zhibo Zhou, Gulibaha Maimaitili, Feng Chen, Jieni Zhang, Jiuxiang Lin Tags: ORIGINAL ARTICLE Source Type: research

Interleukin 10 gene polymorphisms and frailty syndrome in elderly Mexican people: (Sadem study)
These results support a greater susceptibility to frailty for the minor alleles of rs1800871 and rs1800896. In addition, we found two risk haplotypes supporting the participation of theIL10 in the susceptibility for frailty in the Mexican population AbstractFrailty is a geriatric syndrome, characterized by a loss in functional reserve with an increase in morbidity and mortality. There are no reports that link the genetic polymorphisms between interleukin 10(IL10) and frailty; for this reason, our objective was used to analyze the role of the polymorphisms ofIL10 (rs1800896, rs1800871) in the susceptibility to frailty in a ...
Source: Molecular Genetics & Genomic Medicine - August 5, 2019 Category: Genetics & Stem Cells Authors: Teresa Ju árez‐Cedillo, Gilberto Vargas‐Alarcón, Nancy Martínez‐Rodríguez, Enrique Juárez‐Cedillo, José Manuel Fragoso, Jorge Escobedo‐de‐la‐Peña Tags: ORIGINAL ARTICLE Source Type: research

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort
ConclusionsWe described common and novel variants in 15 genes in a Pakistani cohort of NSHL. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 5, 2019 Category: Genetics & Stem Cells Authors: Amjad Khan, Shirui Han, Rongrong Wang, Muhammad Ansar, Wasim Ahmad, Xue Zhang Tags: LETTER TO THE EDITOR Source Type: research

Research participants ’ experiences with return of genetic research results and preferences for web‐based alternatives
ConclusionMost participants receiving genetic research results report high satisfaction with telephone genetic counseling, but some may be willing to consider self ‐directed web alternatives for both predisclosure genetic education and return of results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 2, 2019 Category: Genetics & Stem Cells Authors: Jill B. Gaieski, Linda Patrick ‐Miller, Brian L. Egleston, Kara N. Maxwell, Sarah Walser, Laura DiGiovanni, Jamie Brower, Dominique Fetzer, Amanda Ganzak, Danielle McKenna, Jessica M. Long, Jacquelyn Powers, Jill E. Stopfer, Katherine L. Na Tags: ORIGINAL ARTICLE Source Type: research

Whole ‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome
ConclusionsThis is the first report of an interstitial deletion encompassingOCRL andSMARCA1 gene in Lowe syndrome. Our results expand the spectrum of mutations of theOCRL gene in Chinese population. Moreover, whole ‐genome sequencing presents a comprehensive and reliable approach for detecting genomic copy number variation in patients or carriers in the family with rare inherited disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 2, 2019 Category: Genetics & Stem Cells Authors: Bixia Zheng, Qiuxia Chen, Chunli Wang, Wei Zhou, Ying Chen, Guixia Ding, Zhanjun Jia, Aihua Zhang, SongMing Huang Tags: ORIGINAL ARTICLE Source Type: research

Identification of key candidate targets and pathways for the targeted treatment of leukemia stem cells of chronic myelogenous leukemia using bioinformatics analysis
ConclusionWe identified key candidate targets and pathways for CML LSCs through bioinformatics methods, which improves our understanding of the molecular mechanisms of CML LSCs. These candidate genes and pathways may be therapeutic targets for CML LSCs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 1, 2019 Category: Genetics & Stem Cells Authors: Huayao Li, Lijuan Liu, Jing Zhuang, Cun Liu, Chao Zhou, Jing Yang, Chundi Gao, Gongxi Liu, Changgang Sun Tags: ORIGINAL ARTICLE Source Type: research

Circulating miR ‐130 and its target PPAR‐γ may be potential biomarkers in patients of coronary artery disease with type 2 diabetes mellitus
ConclusionCirculating miR ‐130 may regulate the expression of PPAR‐γ and can be used as a biomarker to discriminate DM2‐CAD from CAD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 31, 2019 Category: Genetics & Stem Cells Authors: Yonggang Yuan, Wanzhong Peng, Yongxing Liu, Zesheng Xu Tags: ORIGINAL ARTICLE Source Type: research

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China
ConclusionIn this study, we showed that nearly half of the parents supported genetic testing mainly for family planning, and a fifth of the parents were opposed to the testing mainly for lack of therapeutic benefit. Moreover, half of the parents expressed concern that a positive genetic result may create potential psychological burden to the parents and children. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 31, 2019 Category: Genetics & Stem Cells Authors: Yu Zhang, Zhirong Wang, Sijian Huang, Limei Sun, Shiying Zhao, Yimin Zhong, Huiming Xiao, Xiaoyan Ding Tags: ORIGINAL ARTICLE Source Type: research

The expanding phenotype of OFD1 ‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia
ConclusionAs clinicians consider the presence or absence of conditions allelic atOFD1, PCD should be considered part of the spectrum ofOFD1‐related disorders. Understanding theOFD1‐related disease spectrum may allow for more focused genetic testing and more timely management of treatable sequelae. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 31, 2019 Category: Genetics & Stem Cells Authors: William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala Tags: ORIGINAL ARTICLE Source Type: research

Novel POLR1C mutation in RNA polymerase III ‐related leukodystrophy with severe myoclonus and dystonia
ConclusionThe clinical and imaging findings of patients withPOLR1C hypomyelinating leukodystrophy are reviewed. Interestingly, severe myoclonic dystonia and T2 hypointensity of the substantia nigra and the subthalamic nucleus are not reported yet and could be helpful for the diagnosis ofPOLR1C hypomyelinating leukodystrophy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 30, 2019 Category: Genetics & Stem Cells Authors: Ichraf Kraoua, Adnane Karkar, Cyrine Drissi, Hanene Benrhouma, Hedia Klaa, Simon Samaan, Florence Renaldo, Monique Elmaleh, Mohamed Ben Hamouda, Sonia Abdelhak, Odile Boespflug ‐Tanguy, Ilfghem Ben Youssef‐Turki, Imen Dorboz Tags: ORIGINAL ARTICLE Source Type: research

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
In this study, 441 patients clinically suspected of having AS were divided into two groups and compared. The initial mutational analysis method involved targeted exome sequencing using next ‐generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing forCOL4A3/COL4A4/COL4A5 (n = 294, Sanger group).ResultsIn the NGS group, 126 patients (86%) were diagnosed with AS by NGS, while two had pathogenic mutations in other genes,NPHS1 andEYA1. Further, 239 patients (81%) were diagnosed with AS by initial analysis in the Sanger group. Thirteen patients who were negative for mutation detection in the S...
Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Mori Tags: ORIGINAL ARTICLE Source Type: research

Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China
ConclusionsOur study not only presented the genotype frequency difference between the selected population of the Bai population and the other 11 populations, but also showed that the Bai population is most similar to the CHB populations, followed by JPT. These findings would contribute to the development of individualized medicine for the Bai population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Wanlu Chen, Heng Ding, Yujing Cheng, Qi Li, Run Dai, Xin Yang, Chan Zhang Tags: ORIGINAL ARTICLE Source Type: research

Genetics of recurrent pregnancy loss among Iranian population
ConclusionThis review paves the way of introducing a population ‐based diagnostic panel of genetic markers for the first time among Iranian RPL cases. Moreover, this review clarifies the genetic and molecular bases of RPL in this population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Meysam Moghbeli Tags: REVIEW ARTICLE Source Type: research

Activation of cryptic splice sites in three patients with chronic granulomatous disease
ConclusionWe found three different mutations, one exonic, one in a donor splice site and one intronic, that all caused missplicing of pre ‐mRNA. We analyzed these mutations with four different splice prediction programs and found that predictions of splice site strength, splice enhancer and splice silencer protein binding and branch site strength are all essential for correct prediction of pre‐mRNA splicing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Martin de Boer, Karin van Leeuwen, Mathias Hauri ‐Hohl, Dirk Roos Tags: ORIGINAL ARTICLE Source Type: research

Molecular investigation in Chinese patients with primary carnitine deficiency
ConclusionsWe identified 13 variants in theSLC22A5 in 24 PCD patients, and five of these variants are novel mutations. c.824+1G>A was confirmed to alter mRNA splicing by reverse transcription PCR. Furthermore, our findings broaden the mutation spectrum ofSLC22A5 and the understanding of the diverse and variable effects of PCD variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang Tags: ORIGINAL ARTICLE Source Type: research

Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population
ConclusionThese results suggest thatEYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Demin Ji, Wenhua Xing, Feng Li, Zhi Huang, Wenkai Zheng, Baoyang Hu, FangLin Niu, Yong Zhu, Xuejun Yang Tags: ORIGINAL ARTICLE Source Type: research

Effects of chromosome 9 inversion on IVF/ICSI: A 7 ‐year retrospective cohort study
ConclusionIn the first IVF or ICSI cycle, couples with one pericentric inversion of chromosome 9 in one partner had satisfactory outcomes. The subgroup analysis showed a tendency of better prognosis for the female carrier and inv(9)(p12;q13) type. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 27, 2019 Category: Genetics & Stem Cells Authors: Shanshan Liang, Jianzhi Yang, Haixia Wu, Xiaoming Teng, Tao Duan Tags: ORIGINAL ARTICLE Source Type: research

TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia
ConclusionOne human patient has been reported previously with a largeTASP1 deletion and substantial evidence exists regarding the role of several known Taspase 1 substrates in human craniofacial and hematopoietic disorders. Moreover, Taspase 1 deficiency in mice results in craniofacial, ophthalmological and structural brain defects. Taken together, there exists substantial evidence to conclude that theTASP1 variant, p.(Val343Met), is pathogenic in this patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 26, 2019 Category: Genetics & Stem Cells Authors: Daniel M. Balkin, Menitha Poranki, Craig M. Forester, Morna J. Dorsey, Anne Slavotinek, Jason H. Pomerantz Tags: ORIGINAL ARTICLE Source Type: research

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
ConclusionLosartan is a promising candidate drug for treatment of GPHYSD due toFBN1 defects. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 26, 2019 Category: Genetics & Stem Cells Authors: Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti ‐Pierri Tags: ORIGINAL ARTICLE Source Type: research

Family still matters: Counseling patients with complex family histories of colon and endometrial cancers
ConclusionConcordance of opinion among GCs for the management of patients with negative genetic test results exists when FDRs are affected. However, when affected relatives are more distant, GCs disagreed on screening recommendations. These data suggest a need for guidelines for patients with a family history of cancer and a negative genetic test. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 25, 2019 Category: Genetics & Stem Cells Authors: Amber P. Gemmell, Caitlin B. Mauer, Brian D. Reys, Sara Pirzadeh ‐Miller, Theodora S. Ross Tags: CLINICAL REPORT Source Type: research

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family
ConclusionThis report illustrates the difficulty that might be encountered in the interpretation of complex clinical manifestations when different genetic defects affecting neuromuscular and vascular diseases coexist. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Joonhong Park, Woori Jang, Ji Yoon Han Tags: CLINICAL REPORT Source Type: research

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia ‐like phenotype, and no chromosome fragility
ConclusionOur data expand the clinical spectrum associated with biallelicBRCA1 mutations, ranging from embryonic lethality to a mild FA ‐like phenotype and no chromosome fragility. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Katharina Keupp, Stephanie Hampp, Annette H übbel, Monika Maringa, Sarah Kostezka, Kerstin Rhiem, Anke Waha, Barbara Wappenschmidt, Roser Pujol, Jordi Surrallés, Rita K. Schmutzler, Lisa Wiesmüller, Eric Hahnen Tags: ORIGINAL ARTICLE Source Type: research

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription
ConclusionOur report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Giuseppe Di Stolfo, Maria Accadia, Sandra Mastroianno, Maria P. Leone, Orazio Palumbo, Pietro Palumbo, Domenico Potenza, Pasquale Maccarone, Michele Sacco, Aldo Russo, Massimo Carella Tags: ORIGINAL ARTICLE Source Type: research

Two novel GJA1 variants in oculodentodigital dysplasia
ConclusionThis report further expands the mutational spectrum of ODDD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Nikolai P. Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg Tags: ORIGINAL ARTICLE Source Type: research

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1
ConclusionNovel pathogenic variants in theNF1 gene in these families correlated with the phenotype and genotype and explained the clinical manifestations of these patients. The results help us to understand the genetic basis of patients with neurofibromatosis type 1 in China. Our study expands the pathogenic variant spectrum of theNF1 gene and may be helpful in genetic counseling and prenatal genetic diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Linlin Chen, Feng Xue, Jia Xu, Jinwei He, Wenzhen Fu, Zhenlin Zhang, Qinglin Kang Tags: ORIGINAL ARTICLE Source Type: research

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
ConclusionThe novel identified variant inCNNM4 is the first report from the Pakistani population. Overall, the study is valuable and may give a novel insight into metal transport in visual function and biomineralization. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar, Naveed Wasif Tags: ORIGINAL ARTICLE Source Type: research

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series
Conclusion3q29 deletion carriers may undergo developmental phenotypic transition and need regular medical follow ‐up. Identified risk variants in the remaining hemizygous allele should be explored further in autism and schizophrenia research. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Eva Albertsen Malt, Katalin Juhasz, Anna Frengen, Teresia Wangensteen, Nina Merete Emilsen, Borre Hansen, Oleg Agafonov, Hilde Loge Nilsen Tags: ORIGINAL ARTICLE Source Type: research

POGZ de novo missense variants in neuropsychiatric disorders
ConclusionOur findings will be beneficial to the functional analysis of POGZ in ASD pathogenesis, and for genetic counseling and clinical diagnosis of patients withPOGZ de novo missense variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Wenjing Zhao, Yingting Quan, Huidan Wu, Lin Han, Ting Bai, Linya Ma, Bin Li, Guanglei Xun, Jianjun Ou, Jingping Zhao, Zhengmao Hu, Hui Guo, Kun Xia Tags: CLINICAL REPORT Source Type: research

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
ConclusionThis is the first report of NDD caused by aBCL11B variant in a Chinese population. The mutation identified in this report broadens the knowledge of mutation spectrum ofBCL11B and might help in genetic counseling and reducing reproductive risk. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Fengchang Qiao, Chen Wang, Chunyu Luo, Yan Wang, Binbin Shao, Jianxin Tan, Ping Hu, Zhengfeng Xu Tags: CLINICAL REPORT Source Type: research

Impact of CHRNA5 polymorphisms on the risk of schizophrenia in the Chinese Han population
ConclusionsOverall, our findings supported that the potential association existed betweenCHRNA5 polymorphisms and schizophrenia susceptibility in a Chinese population. But, large sample validation is needed to enhance the accuracy of our results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 23, 2019 Category: Genetics & Stem Cells Authors: Dafei Zhan, Qiankun Yao, Shaojian Fu, Xianglai Liu, Jun Zhou, Daqiang Chen, Chuanlong Yu Tags: ORIGINAL ARTICLE Source Type: research

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
ConclusionThis rather nonsyndromic and nonspecific clinical picture implies that additional patients withC12orf4 defects will likely continue to be identified using the “genotype‐first” approach, rather than based on clinical assessment. The phenotype needs further delineation in future reports. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Miroslava Hancarova, Davit Babikyan, Sarka Bendova, Susanna Midyan, Darina Prchalova, Gohar Shahsuvaryan, Viktor Stranecky, Tamara Sarkisian, Zdenek Sedlacek Tags: CLINICAL REPORT Source Type: research

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
ConclusionCMTX5 is probably under ‐diagnosed, as an overlap among the different features due toPRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed forPRPS1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Justine Lerat, Corinne Magdelaine, Paco Derouault, H élène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel EVC variant in a Han ‐Chinese family with Ellis‐van Creveld syndrome
ConclusionThe identified novel homozygousEVC variant, c.2014C>T, p.(Q672*), was responsible for EVC in this Han ‐Chinese pedigree. The findings in this study extend theEVC mutation spectrum and may provide new insights into EVC causation and diagnosis with implications for genetic counseling and clinical management. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Xiangjun Huang, Yi Guo, Hongbo Xu, Zhijian Yang, Xiong Deng, Hao Deng, Lamei Yuan Tags: ORIGINAL ARTICLE Source Type: research

DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)
ConclusionOur study showed that the methylation status of theGDF5 in patients with DDH is dysregulated. This dysregulation indicates that adjustment in the methylation might modify the expression of this gene. Since this gene plays an essential role in cartilage and bone development, thus reducing its expression can contribute to the pathogenesis of DDH. Further studies are needed to elucidate the role ofGDF5 in this disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Taghi Baghdadi, Mohammad Nejadhosseinian, Reza Shirkoohi, Reza Mostafavi Tabatabaee, Seyed S. Tamehri, Mojtaba Saffari, S. M. Javad Mortazavi Tags: ORIGINAL ARTICLE Source Type: research

Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl
ConclusionOur study evidenced that this novel mutation inWDR45 impaired autophagy in cells thus this mutation is the cause for BPAN in this patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 21, 2019 Category: Genetics & Stem Cells Authors: Qiuhong Xiong, Wenjing Li, Ping Li, Zhonghua Zhao, Changxin Wu, Han Xiao Tags: ORIGINAL ARTICLE Source Type: research

Two novel mutations in TTN of a patient with congenital myopathy: A case report
ConclusionWe propose that unbiased genomic sequencing can be helpful in screening patients with early ‐onset myopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 21, 2019 Category: Genetics & Stem Cells Authors: Joon Young Jang, Yulhyun Park, Dae ‐Hyun Jang, Ja‐Hyun Jang, Ju Seok Ryu Tags: CLINICAL REPORT Source Type: research

Toll ‐like receptor 4 polymorphisms in Saudi population with cardiovascular diseases
ConclusionA deeper understanding of the genetic variability of TLR4 will enable us to better identification of biomarkers for early detection and prognosis, and also enhance the decision ‐making process of treatments for cardiovascular diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 20, 2019 Category: Genetics & Stem Cells Authors: Abdelhabib Semlali, Mikhlid Al Mutairi, Ibrahim Oqla Alanazi, Hasan Awad Aljohi, Narasimha Reddy Parine, Abdullah Alhadheq, Abdulaziz A. Al ‐Jafari, Abdulelah F. Mobeirek, Abdullah Al Amri, Jilani P. Shaik, Fatima‐zohra Filali, Mohammad Ala Tags: ORIGINAL ARTICLE Source Type: research

Long noncoding RNA HOTTIP is associated with male infertility and promotes testicular embryonal carcinoma cell proliferation
ConclusionTherefore,HOTTIP acting as ceRNAs to promote testicular embryonal carcinoma cell proliferation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 20, 2019 Category: Genetics & Stem Cells Authors: Yang Su, Ling ‐Ling Zhou, Yu‐Qing Zhang, Liang‐Yu Ni Tags: ORIGINAL ARTICLE Source Type: research

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family
ConclusionDespite the evidence provided, pathogenic variants in theGLI3 do not always definitely correlate with syndromic or nonsyndromic clinical phenotypes associated with this gene. For this reason, further transcriptomic and proteomic evaluation could be suggested. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 19, 2019 Category: Genetics & Stem Cells Authors: Evelina Siavrien ė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitie Tags: CLINICAL REPORT Source Type: research

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three ‐generation family with Crouzon syndrome carrying a mutant c.799T > C FGFR2
ConclusionCrouzon syndrome in this three ‐generation family was caused by c.799T>CFGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>CFGFR2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang Tags: CLINICAL REPORT Source Type: research

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
ConclusionTogether with the CNVs we previously identified, a total of four pathogenicIDUA CNVs have now been reported. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Amir Jahic, Sven G ünther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz Tags: ORIGINAL ARTICLE Source Type: research

Oncometabolites: A new insight for oncology
Molecular Genetics&Genomic Medicine, EarlyView. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Fatemeh Khatami, Seyed Mohammad Kazem Aghamir, Seyed Mohammad Tavangar Tags: EDITORIAL Source Type: research

Functional evaluation of a novel GLA causative mutation in Fabry disease
ConclusionA novel GLA missense mutation, c.280T>C (Cys94Arg), was found in a Chinese family with predominant renal manifestations of FD. Our study reveals the pathogenesis of c.280T>C mutation to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Ping Li, Lijuan Zhang, Qiuhong Xiong, Zhe Wang, Xiaodong Cui, Yong ‐An Zhou, Yuxian Wang, Han Xiao, Changxin Wu Tags: ORIGINAL ARTICLE Source Type: research

Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman
ConclusionThis report added a new type of variation to the spectrum of 18p terminal deletion with inverted duplication, and demonstrated that the maternal chromosome rearrangement discovered in NIPT should not just be consider as an interference factor but also a potential indicator of previously undiscovered pathogenic chromosome structure variations in pregnant women. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 16, 2019 Category: Genetics & Stem Cells Authors: Jianjiang Zhu, Hong Qi, Sha Cao, Lirong Cai, Xiaohui Wen, Guodong Tang, Qian Wan, Chen Chen, Juan Wang, Wen Zeng, Yao Luo Tags: ORIGINAL ARTICLE Source Type: research

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers
ConclusionThis review emphasizes the importance of screeningBRCA genetics, in addition to their clinical utility. Furthermore, founder variants are anticipated in the Saudi population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 16, 2019 Category: Genetics & Stem Cells Authors: Yousef M. Hawsawi, Nouf S. Al ‐Numair, Turki M. Sobahy, Areej M. Al‐Ajmi, Raneem M. Al‐Harbi, Mohammed A. Baghdadi, Atif A. Oyouni, Osama M. Alamer Tags: REVIEW ARTICLE Source Type: research

Whole ‐exome sequencing and immunohistochemistry findings in von Hippel–Lindau disease
ConclusionExcept for a SNV in theVHL gene, no other somatic SNVs were detected using WES. The phospho ‐S6 ribosomal protein in the mTOR pathway is a potential target in VHL‐related cerebellum hemangioblastomas. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 16, 2019 Category: Genetics & Stem Cells Authors: Xiaopeng Guo, Lu Gao, Xiafei Hong, Dan Guo, Wenyu Di, Xiaoman Wang, Zhiqin Xu, Bing Xing Tags: ORIGINAL ARTICLE Source Type: research