Comprehensive genetic structure analysis of Han population from Dalian City revealed by 20 Y ‐STRs
ConclusionMultidimensional scaling (MDS) analysis based upon pairwise Rst genetic distance showed difference among Han population from the east to the west and from the north to the south. We also predicted haplogroups using Y ‐STR haplotypes, which showed the dominance of Haplogroup O (65.2%) followed by Haplogroup C (14.5%) in Dalian Han population. Moreover, we found 10 individuals showed a null allele at the DYS448 in our samples. We also performed linear discriminatory analysis (LDA) between Han and other prominent Chinese minority ethnic groups. We presented Y‐STRs data in the Y‐Chromosome Haplotype Reference D...
Source: Molecular Genetics & Genomic Medicine - January 27, 2020 Category: Genetics & Stem Cells Authors: Atif Adnan, Kaidirina Kasimu, Allah Rakha, Guanglin He, Tongya Yang, Chuan ‐Chao Wang, Jie Lu, Jin‐feng Xuan Tags: ORIGINAL ARTICLE Source Type: research

Survey of Ehlers ‒Danlos Patients’ ophthalmic surgery experiences
ConclusionsPatients with EDS may have elevated risk of postoperative ophthalmic surgical complications. It would seem reasonable to systemically and prospectively explore how patients with EDS respond to ophthalmic surgery. Furthermore, it would seem circumspect to ask surgical candidates patients about whether they carry a diagnosis of EDS or have signs and symptoms of EDS prior to surgery. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 27, 2020 Category: Genetics & Stem Cells Authors: Anita Louie, Catherine Meyerle, Clair Francomano, Divya Srikumaran, Farhan Merali, Jefferson J. Doyle, Kraig Bower, Lara Bloom, Michael V. Boland, Nicholas Mahoney, Yassine Daoud, Eric L. Singman Tags: ORIGINAL ARTICLE Source Type: research

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
ConclusionTo date, nine patients with CMS22 have been reported including our patient, and we report the youngest and the first UPD(2)mat withPREPL novel homozygous pathogenic mutation case, which expand the mutation spectrum ofPREPL gene. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 27, 2020 Category: Genetics & Stem Cells Authors: Ping Zhang, Bingbing Wu, Yulan Lu, Qi Ni, Renchao Liu, Wenhao Zhou, Huijun Wang Tags: CLINICAL REPORT Source Type: research

Novel KLHL26 variant associated with a familial case of Ebstein ’s anomaly and left ventricular noncompaction
Patient's Ebstein's anomaly (EA), a rare congenital heart disease of the tricuspid valve and right ventricle often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Our study identifies a novel, rare, and damaging coding variant c.709C  >  T (p.R237C) in the Kelch‐like family member 26 (KLHL26) gene with 10 affected out of 17 affected members using Sanger sequencing. Through structural modeling, we show that the KLHL26 variant may affect protein binding to Cullin3 (CUL3), a component of E3 ubiquitin ligase in the ubiquitin‐media ted protein degradation. AbstractBackgroundEbstein's anom...
Source: Molecular Genetics & Genomic Medicine - January 27, 2020 Category: Genetics & Stem Cells Authors: Sai Suma K. Samudrala, Lauren M. North, Karl D. Stamm, Michael G. Earing, Michele A. Frommelt, Richard Willes, Swarnendu Tripathi, Nikita R. Dsouza, Michael T. Zimmermann, Donna K. Mahnke, Huan Ling Liang, Michael Lund, Chien ‐Wei Lin, Gabr Tags: ORIGINAL ARTICLE Source Type: research

Genome sequencing in cytogenetics: Comparison of short ‐read and linked‐read approaches for germline structural variant detection and characterization
ConclusionIn conclusion, regarding the results of this study, 10X Genomics solution did not improve the detection and characterization of SV. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 27, 2020 Category: Genetics & Stem Cells Authors: K évin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tags: METHOD Source Type: research

Common and distinct features of potentially predictive biomarkers in small cell lung carcinoma and large cell neuroendocrine carcinoma of the lung by systematic and integrated analysis
ConclusionThis study provided effective biomarkers and novel therapeutic targets for diagnosis and prognosis of SCLC and LCNEC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 25, 2020 Category: Genetics & Stem Cells Authors: Shenghua Dong, Jun Liang, Wenxin Zhai, Zhuang Yu Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image is based on the Original ArticleGenetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1 by Mao Lin et al.,https://doi.org/10.1002/mgg3.1023. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 23, 2020 Category: Genetics & Stem Cells Authors: Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 8, Issue 1, January 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 23, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia
ConclusionThis case underlines the variability of phenotypes associated withPTEN germline mutations and provides useful information for diagnosis and genetic counseling ofPTEN‐related diseases for pediatric patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 23, 2020 Category: Genetics & Stem Cells Authors: Jidong Liu, Guolian Ding, Kexin Zou, Ziru Jiang, Junyu Zhang, Yunhua Lu, Antonella Pignata, Eric Venner, Pengfei Liu, Zhandong Liu, Michael F. Wangler, Zheng Sun Tags: CLINICAL REPORT Source Type: research

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
ConclusionsWe identified two novel disease ‐associated variants inCOL2A1, which led to severe SEDC. Our findings expanded the gene variant spectrum and phenotypic spectrum of extremely rare type II collagenopathies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 23, 2020 Category: Genetics & Stem Cells Authors: Wen ‐bin Zheng, Lu‐jiao Li, Di‐chen Zhao, Ou Wang, Yan Jiang, Wei‐bo Xia, Xiao‐ping Xing, Mei Li Tags: ORIGINAL ARTICLE Source Type: research

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report
ConclusionThis is the second case who had twoFGFR3 variants in the transmembrane domain on the same allele. The p.S378N variant may provide an additive effect on the activating receptor with the p.G380R mutation and alter the protein function, which could be responsible for the severe phenotype of the present case. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 23, 2020 Category: Genetics & Stem Cells Authors: Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh Tags: ORIGINAL ARTICLE Source Type: research

Aromatic L ‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview
DiscussionThe clinical data of the cohort of 17 patients in Mainland China broaden the clinical, molecular, and treatment spectrum of aromatic L ‐amino acid decarboxylase deficiency. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 23, 2020 Category: Genetics & Stem Cells Authors: Weiqian Dai, Deyun Lu, Xuefan Gu, Yongguo Yu, on behalf of the Mainland Chinese League of AADC Rare Disease Tags: ORIGINAL ARTICLE Source Type: research

Extending the spectrum of CLRN1 ‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing
ConclusionOur findings extend the spectrum ofCLRN1‐ andABCA4‐associated IRDs and describe new phenotypes for these genes. We also highlighted the importance of combining molecular and clinical data to correctly diagnose IRDs and the utility of simulation analysis to predict the effect of splice donor variants on protein formation and function. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 22, 2020 Category: Genetics & Stem Cells Authors: Mohammed Abu ‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Amr, Ma'mon M. Hatmal, Muawyah Al‐Bdour, Abdalla Awidi, Belal Azab Tags: ORIGINAL ARTICLE Source Type: research

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
ConclusionsOur study helps define the genetic factors contributing to 46,XY DSD and suggests that the majority of variants we identified inGATA4 andZFPM2/FOG2 are not causative. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 21, 2020 Category: Genetics & Stem Cells Authors: Jocelyn A. Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R. Grover, Philip B. Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R. Davis, Makato Ono, Vincent Harley, Sultana M. H. Tags: ORIGINAL ARTICLE Source Type: research

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia ‐induced acute pancreatitis in pregnancy
ConclusionThis report describes the first identification and functional characterization of a heterozygous variant in theLPL that predisposed to recurrent HTG ‐APIP. Our findings confirm a major genetic contribution to the etiology of individual predisposition to HTG‐APIP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 21, 2020 Category: Genetics & Stem Cells Authors: Xiao ‐Lei Shi, Qi Yang, Na Pu, Xiao‐Yao Li, Wei‐Wei Chen, Jing Zhou, Gang Li, Zhi‐Hui Tong, Claude Férec, David N. Cooper, Jian‐Min Chen, Wei‐Qin Li Tags: ORIGINAL ARTICLE Source Type: research

SCD rs41290540 single ‐nucleotide polymorphism modifies miR‐498 binding and is associated with a decreased risk of coronary artery disease
ConclusionThis study demonstrates that theSCD rs41290540 may be associated with a decreased risk of CAD, lower serum TC, and decreased miR ‐498 binding. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 21, 2020 Category: Genetics & Stem Cells Authors: Zhou Liu, Xiaojian Yin, Hui Mai, Guangning Li, Zhijun Lin, Wanxin Jie, Kanglan Li, Haihong Zhou, Shouchao Wei, Li Hu, Wanjuan Peng, Jiajing Lin, Feng Yao, Hua Tao, Xing ‐dong Xiong, Keshen Li Tags: ORIGINAL ARTICLE Source Type: research

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
ConclusionThe deletion ofDRC1 is the major cause of PCD in Japan and this alteration can cause various ciliary ultrastructural abnormalities. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2020 Category: Genetics & Stem Cells Authors: Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani Tags: ORIGINAL ARTICLE Source Type: research

Identification of novel differentially expressed genes in retinas of STZ ‐induced long‐term diabetic rats through RNA sequencing
ConclusionOur research has identified specific DEGs and also speculated their potential functions, which will provide novel targets to explore the molecular mechanisms of DR. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2020 Category: Genetics & Stem Cells Authors: Xindan Xing, Yan Jiang, Hanying Wang, Yuan Zhang, Tian Niu, Yuan Qu, Chingyi Wang, Haiyan Wang, Kun Liu Tags: ORIGINAL ARTICLE Source Type: research

Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
ConclusionThe gene variants identified in this study expand the variant frequency and spectrum of RP genes; moreover, the identification of these variants supplies foundational clues for future RP diagnosis and therapy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2020 Category: Genetics & Stem Cells Authors: Handong Dan, Xin Huang, Yiqiao Xing, Yin Shen Tags: ORIGINAL ARTICLE Source Type: research

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole ‐exome sequencing
ConclusionWe added the notion that not only p.Ile736Thr variant ofMYH7, but alsoTNNI3 deletion might potentially contribute to HCM pathogenesis. Our study also suggested WES was a powerful tool to identify the genetic variants causing HCM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2020 Category: Genetics & Stem Cells Authors: Ming ‐Bao Ren, Xiao‐Rui Chai, Lin Li, Xin Wang, Chenghong Yin Tags: ORIGINAL ARTICLE Source Type: research

Identification of six novel variants in Waardenburg syndrome type II by next ‐generation sequencing
ConclusionResults showed that targeted next ‐generation sequencing (NGS) enabled us to detect disease‐causing mutations with high accuracy, stability, speed and throughput. Our study extends the pathogenic mutation spectrum ofMITF andSOX10. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2020 Category: Genetics & Stem Cells Authors: Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi Tags: ORIGINAL ARTICLE Source Type: research

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations
ConclusionHeterozygousNPR2 mutations were found in 2.6% of ISS Korean subjects. This prevalence and the dominant ‐negative effect of mutant NPR‐B on growth signals imply that it is one of genetic causes of ISS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2020 Category: Genetics & Stem Cells Authors: Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo ‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang Tags: ORIGINAL ARTICLE Source Type: research

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2
ConclusionOur patient's clinical features appear to be influenced by thePLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 17, 2020 Category: Genetics & Stem Cells Authors: Swati R. Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M. Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F. Giampietro Tags: ORIGINAL ARTICLE Source Type: research

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation
ConclusionWe speculate that mitochondrial dysfunction may be a feature in patients with DDCH. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 17, 2020 Category: Genetics & Stem Cells Authors: Kenji Shimizu, Daiju Oba, Ryusuke Nambu, Manabu Tanaka, Eiji Oguma, Kei Murayama, Akira Ohtake, Koh ‐ichiro Yoshiura, Hirofumi Ohashi Tags: CLINICAL REPORT Source Type: research

A case report of genetic prion disease with two different PRNP variants
ConclusionThis presentation is reminiscent of prion protein knockout mice whose predominate symptom, due to complete loss of PrP, was late ‐onset peripheral neuropathy. To our knowledge this is the first case reported of a patient with prion disease who had two different pathogenic variants inPRNP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 17, 2020 Category: Genetics & Stem Cells Authors: Megan Piazza, Thomas W. Prior, Prabhjot S. Khalsa, Brian Appleby Tags: ORIGINAL ARTICLE Source Type: research

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
ConclusionOur study supports the finding thatTOP2B variants may cause NDDs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 17, 2020 Category: Genetics & Stem Cells Authors: Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu Tags: CLINICAL REPORT Source Type: research

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
ConclusionAlthough compound heterozygosity or homozygosity is rare in MFS, it should be considered when there is an unusually severe phenotype in a subset of family members. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 16, 2020 Category: Genetics & Stem Cells Authors: Aideen M. McInerney ‐Leo, Jennifer West, Lawrie Wheeler, Paul J. Leo, Kim M. Summers, Lisa Anderson, Matthew A. Brown, Malcolm West, Emma L. Duncan Tags: CLINICAL REPORT Source Type: research

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype
ConclusionOur study suggests that in HSP patients with psychiatric symptoms,ATP13A2 mutations should be suspected, especially if they also have extrapyramidal symptoms. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 15, 2020 Category: Genetics & Stem Cells Authors: Mehrdad A. Estiar, Etienne Leveille, Dan Spiegelman, Nicolas Dupre, Jean-Fran çois Trempe, Guy A. Rouleau, Ziv Gan‐Or Tags: ORIGINAL ARTICLE Source Type: research

Whole ‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
ConclusionThe present study shows a rare variant of theCTSK gene, which inherited as autosomal recessive, in an Iranian male patient with pycnodysostosis. Taken together, the novel nonsenseCTSK variant meets the criteria of being likely pathogenic according to the American College of Medical Genetics and Genomics ‐the Association for Molecular Pathology (ACMG‐AMP) variant interpretation guidelines. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 15, 2020 Category: Genetics & Stem Cells Authors: Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh ‐Gharehdaghi, Masoud Garshasbi Tags: ORIGINAL ARTICLE Source Type: research

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations
ConclusionsPanel ‐based targeted exome sequencing was used to identify three novel variants of RP causative gene, and we also detected a known pathogenic variants of blue‐blindness causative genes in two patients. Our finding will provide a powerful basis for genetic counseling and enhance our current understand ing of the genetics factors for RP families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 15, 2020 Category: Genetics & Stem Cells Authors: Yan Sun, Jian ‐kang Li, Wei He, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Jian‐guo Zhang, Lusheng Wang, Wei Li, Fang Chen Tags: ORIGINAL ARTICLE Source Type: research

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
ConclusionThe contribution of these two different genetic causes in determining the phenotype of our patient is discussed, including some clinical signs not explained by the detected variants.The report then highlights the role of WES in providing complete and fast diagnosis in patients with complex presentations of rare genetic syndromes, with important implications in the assessment of recurrence risk. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 14, 2020 Category: Genetics & Stem Cells Authors: Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussa Tags: ORIGINAL ARTICLE Source Type: research

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
ConclusionThis study expands the mutation spectrum of GD and highlights the importance of RNA sequencing for the molecular diagnosis of patients bearing mutations in nonexonic regions. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 14, 2020 Category: Genetics & Stem Cells Authors: Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou Tags: ORIGINAL ARTICLE Source Type: research

Association of VEGFA and IL1 β gene polymorphisms with preeclampsia in Sudanese women
Preeclampsia can lead to adverse maternal and perinatal outcomes. We investigate single nucleotide polymorphisms in vascular endothelial growth factor A (VEGFA) and interleukin ‐1β. Significant association was observed between preeclampsia and rs3025039, rs16944, and rs1143634. AbstractBackgroundPreeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the genetic factors associated with preeclampsia in Africa in general and in Sudan in specific.MethodsA case –control study (60 women in each arm) was conducted at Saad Abualila Hospital in Khartoum, Sudan, from March to Septembe...
Source: Molecular Genetics & Genomic Medicine - January 14, 2020 Category: Genetics & Stem Cells Authors: Hameed M. Hamid, Sana E. Abdalla, Mohamed Sidig, Ishag Adam, Hamdan Z. Hamdan Tags: ORIGINAL ARTICLE Source Type: research

A novel GJB1 mutation associated with X ‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree
ConclusionOur findings demonstrate that a novel mutation (c.605T>A) inGJB1 is associated with CMTX and adds to the repertoire ofGJB1 mutations related to CMTX. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 14, 2020 Category: Genetics & Stem Cells Authors: Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu Tags: ORIGINAL ARTICLE Source Type: research

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
ConclusionThe present results indicate that phenotypic effects of X chromosome aneuploidy depend on the nature of the supernumerary X chromosome, the pattern of mosaicism, and XCI status. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 13, 2020 Category: Genetics & Stem Cells Authors: Satoru Takahashi, Ryo Takeguchi, Mami Kuroda, Ryosuke Tanaka Tags: CLINICAL REPORT Source Type: research

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family
ConclusionThe study expands the knowledge of the mutational spectrum ofXPC and is valuable for genetic counseling of affected individuals and their families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 10, 2020 Category: Genetics & Stem Cells Authors: Muhammad Z. Ali, Jasmin Blatterer, Muzammil A. Khan, Erich Schaflinger, Erwin Petek, Safeer Ahmad, Ejazullah Khan, Christian Windpassinger Tags: ORIGINAL ARTICLE Source Type: research

Modification effect of sex and obesity on the correlation of LEP polymorphisms with leptin levels in Taiwanese obese women
ConclusionTheLEP polymorphisms are independently associated with leptin levels in Taiwanese obese women. Further, the genetic determinants for leptin levels may be different between obese and nonobese, and in different sex individuals. The obesity status and female sex may exert modification effect on transcription ofLEP, particularly in obese women. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 8, 2020 Category: Genetics & Stem Cells Authors: De ‐Min Duan, Jing‐Yi Jhang, Semon Wu, Ming‐Sheng Teng, Lung‐An Hsu, Yu‐Lin Ko Tags: ORIGINAL ARTICLE Source Type: research

Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen ‐de Vries syndrome
ConclusionThis is the first published case of Jansen ‐de Vries syndrome in Chinese population, which will help us to enrich the clinical spectrum of this syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 8, 2020 Category: Genetics & Stem Cells Authors: Zhuoguang Li, Caiqi Du, Cai Zhang, Mini Zhang, Yanqin Ying, Yan Liang, Xiaoping Luo Tags: CLINICAL REPORT Source Type: research

KCNQ1OT1 promotes ovarian cancer progression via modulating MIR ‐142‐5p/CAPN10 axis
ConclusionsTaken together,KCNQ1OT1 upregulatesCAPN10 expression via spongingMIR ‐142‐5p, thus promoting the proliferation and migration of OC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 7, 2020 Category: Genetics & Stem Cells Authors: Hongli Liu, Ruixin Chen, Fenhong Kang, Haiqing Lai, Yanlong Wang Tags: ORIGINAL ARTICLE Source Type: research

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness ‐dystonia‐optic neuronopathy syndrome
ConclusionThis case expands the spectrum of mutations that cause DDON syndrome and demonstrates effects on mitochondrial morphology that are consistent with prior reports. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 5, 2020 Category: Genetics & Stem Cells Authors: Addison Neighbors, Tonya Moss, Lynda Holloway, Seok ‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet Tags: ORIGINAL ARTICLE Source Type: research

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2
ConclusionOur study reports the first patient of Asian origin with CSCSC2 due to a pathogenic mutation of MAPRE2 and expands the clinical and genetic spectrum of CSCSC2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 5, 2020 Category: Genetics & Stem Cells Authors: Jincai Feng, Xiaoping Lan, Jun Shen, Xiaozhen Song, Xiaojun Tang, Wuhen Xu, Xiang Ren, Hong Zhang, Guangjun Yu, Shengnan Wu Tags: ORIGINAL ARTICLE Source Type: research

Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
ConclusionOur findings showed that the mutations ofCOL1A1 may play important roles in fetal genetic skeletal dysplasia in Chinese patients. Exome sequencing enhances the accurate diagnosis in utero then provides appropriate genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 3, 2020 Category: Genetics & Stem Cells Authors: Ruibing Li, Jianan Wang, Longxia Wang, Yanping Lu, Chengbin Wang Tags: ORIGINAL ARTICLE Source Type: research

Developmental aspects of FXAND in a man with the FMR1 premutation
ConclusionThis is an exemplary case of anFMR1 premutation carrier with significant psychiatric and cognitive issues that demonstrates Fragile X ‐associated Neuropsychiatric Disorders (FXAND) as separate from the other well‐known premutation disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 3, 2020 Category: Genetics & Stem Cells Authors: Ellery Santos, Chinelo Emeka ‐Nwonovo, Jun Yi Wang, Andrea Schneider, Flora Tassone, Paul Hagerman, Randi Hagerman Tags: CLINICAL REPORT Source Type: research

Superoxide imbalance triggered by Val16Ala ‐SOD2 polymorphism increases the risk of depression and self‐reported psychological stress in free‐living elderly people
ConclusionOur findings support the hypothesis that genetically induced oxidative superoxide ‐hydrogen peroxide imbalance may be involved in an increased risk for developing depression and psychological stress in free‐living elderly people without other chronic nontransmissible diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 31, 2019 Category: Genetics & Stem Cells Authors: Ivo Emilio Cruz Jung, Ivana Beatrice M ânica Cruz, Fernanda Barbisan, Alexis Trott, Lucien J. Houenou, Bárbara Osmarin Turra, Thiago Duarte, Raquel Souza Praia, Ednea Aguiar Maia‐Ribeiro, Jaqueline Costa Escobar Piccoli, Claudia Giugliano Bi Tags: ORIGINAL ARTICLE Source Type: research

Identification of RNPC3 as a novel JAK2 fusion partner gene in B ‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib
ConclusionThis finding adds to the expanding compendium ofJAK2 fusions found in B ‐ALL and suggests the potential need for a diagnostic FISH analysis as well as RNA‐Seq in the appropriate clinical setting. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 30, 2019 Category: Genetics & Stem Cells Authors: Xue Chen, Fang Wang, Yang Zhang, Xiaoli Ma, Mingyue Liu, Panxiang Cao, Lin Zhou, Lan Wang, Xian Zhang, Tong Wang, Hongxing Liu Tags: ORIGINAL ARTICLE Source Type: research

A novel de novo nonsense mutation in ZC4H2 causes Wieacker ‐Wolff Syndrome
ConclusionFemale heterozygous carriers with nonsense mutation with a truncated ZC4H2 protein could lead to the pathogenesis of Wieacker ‐Wolff syndrome and our study provides a potential new target for the disease treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 30, 2019 Category: Genetics & Stem Cells Authors: Dan Wang, Dongjie Hu, Zhichao Guo, Rong Hu, Qunxian Wang, Yannan Liu, Mingjing Liu, Zijun Meng, Huan Yang, Yun Zhang, Fang Cai, Weihui Zhou, Weihong Song Tags: ORIGINAL ARTICLE Source Type: research

Noonan syndrome ‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish
ConclusionOur novel zebrafish model phenocopied human recessive Noonan syndrome and supported the loss ‐of‐function mechanism of disease‐causingLZTR1 variants. The discovery of vascular malformations in mutants calls for the clinical follow ‐up of patients to monitor for its emergence. The model will serve as a novel platform for investigating the pathophysiology linking RAS/MAPK signaling to cardiac and vascular pathology. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 28, 2019 Category: Genetics & Stem Cells Authors: Yu Nakagama, Norihiko Takeda, Seishi Ogawa, Hiroyuki Takeda, Yoshiyuki Furutani, Toshio Nakanishi, Tatsuyuki Sato, Yoichiro Hirata, Akira Oka, Ryo Inuzuka Tags: ORIGINAL ARTICLE Source Type: research

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers
ConclusionsHeterozygousPDLIM5 variants are rare and therefore will not have a major contribution in DCM. Although they likely play a role in disease development as this gene plays a major role in contracting cardiomyocytes and homozygous variants lead to early ‐onset cardiac disease. Other environmental and/or genetic factors are probably necessary to unveil the cardiac phenotype inPDLIM5 mutation carriers. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 27, 2019 Category: Genetics & Stem Cells Authors: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur Wijngaard, Jan F. C. Glatz, Stephane R. B. Heyman Tags: ORIGINAL ARTICLE Source Type: research

Lessons learned from expanded reproductive carrier screening in self ‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients
ConclusionFor maximal carrier identification, this study supports using expanded NGS panels for individuals of all Jewish backgrounds. This approach can better empower at ‐risk couples for reproductive decision making. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 27, 2019 Category: Genetics & Stem Cells Authors: Gidon Akler, Ashley H. Birch, Nicole Schreiber ‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. W Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity
ConclusionWe found a homozygous mutation in exon 4 of NIPAL4 c.534A>C (p.E178D), which was identified for the first time in our study. Bioinformatic investigations supported its involvement in the phenotype of patients with CIE. Interestingly, this mutation was located in the hypothetical transport channel cavity and leads to changes in the channel architecture, which would probably affect its transport function. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 26, 2019 Category: Genetics & Stem Cells Authors: Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh Tags: ORIGINAL ARTICLE Source Type: research