Molecular Genetics & Genomic Medicine Molecular Genetics & Genomic Medicine RSS feedThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women
ConclusionAlthough the acceptability and awareness of SMA carrier screening in Chinese population has increased in recent years, it still fails to reach the ideal expectation. Our experience may provide a basis for and facilitate the popularization of SMA carrier screening in Shenzhen area. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Lijun Zhang, Junluan Mo, Lu Zhou, Xiaoxin Xu, Zhiyong Xu, Lei Zhang, Weiqing Wu Tags: ORIGINAL ARTICLE Source Type: research

Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree
ConclusionOur study revealed that compound heterozygous mutations ofCFTR are involved in CBAVD, expanding the knownCFTR gene mutation spectrum of CBAVD patients and providing more evidence that compound heterozygous mutations can cause familial CBAVD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Lingyi Li, Xiaowei Qu, Chenchen Cui, Ke Feng, Yanqing Xia, Feng Wan, Hengtao Ge, Yinghong Fang, Cuilian Zhang, Haibin Guo Tags: ORIGINAL ARTICLE Source Type: research

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype
ConclusionsWe present the first molecular data for a cohort of South African patients with CdLS. Eight of the nine variants identified were in theNIPBL gene, the most commonly involved gene in cases of CdLS. This is also the first report of a patient of African ancestry presenting withSTAG1-related CdLS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 13, 2024 Category: Genetics & Stem Cells Authors: Heather Seymour, Candice Feben, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Maria Mudau, Engela Honey, Zane Lombard, Amanda Krause, Nadia Carstens Tags: CLINICAL REPORT Source Type: research

A genetic variant in the MAST1 gene is associated with mega ‐corpus‐callosum syndrome with hypoplastic cerebellar vermis, in a fetus
ConclusionThis study is the first prenatal case ofMAST1-related disorder reported in the Chinese population and has expanded the mutation spectrum of theMAST1 gene. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 12, 2024 Category: Genetics & Stem Cells Authors: Sheng Yi, Xianglian Tang, Fei Chen, Linlin Wang, Junjie Chen, Zuojian Yang, Minpan Huang, Shang Yi, Limei Huang, Qi Yang, Shuihua Yang, Pingshan Pan, Zailong Qin, Jingsi Luo Tags: ORIGINAL ARTICLE Source Type: research

Novel homozygous mutations in TXNDC15 causing Meckel syndrome
ConclusionOur study identified a new mutation that adds to the mutational landscape of MKS, which provide a basis for genetic counseling and the selection of reproductive options. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 30, 2023 Category: Genetics & Stem Cells Authors: Tianqin Deng, Yuli Xie Tags: CLINICAL REPORT Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 29, 2023 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2
ConclusionThe majority of the other reported mutations are frameshift mutations upstream of the SET domain and are predicted to result in protein truncation. It is thought that truncation of the SET domain, results functionally in an inability to modify chromatin through histone methylation. This report expands the clinical and genetic characterisation of Kleefstra syndrome 2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 27, 2023 Category: Genetics & Stem Cells Authors: Whitney Whitford, Juliet Taylor, Ian Hayes, Warwick Smith, Russell G. Snell, Klaus Lehnert, Jessie C. Jacobsen Tags: ORIGINAL ARTICLE Source Type: research

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
ConclusionsOur findings identified a novel missense mutation in the NDP gene associated with Norrie disease in China, expanding the mutation spectrum associated with ND. This discovery holds diagnostic, prognostic, and genetic counseling implications for affected individuals. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 26, 2023 Category: Genetics & Stem Cells Authors: Keke Jiang, Shuying Wang, Huixin Sun, Chuanzhi Peng, Nan Li, Shuchan Li, Rongyu Gao, Jie Zhang Tags: CLINICAL REPORT Source Type: research

The c.386A > C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant
ConclusionOur study provides evidence supporting the classification of the c.386A>C p.(Asn129Thr) variant in SMAD4 as a likely pathogenic variant. This finding contributes to improved accuracy in the diagnosis and genetic counseling of JPS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 26, 2023 Category: Genetics & Stem Cells Authors: F átima Valentín, Alberto Herreros de Tejada, Emiliano Gonzaléz‐Vioque, Natalia García‐Simón, Antonio Sánchez, Atocha Romero Tags: CLINICAL REPORT Source Type: research

A Chinese patient with Rothmund –Thomson syndrome
ConclusionOur study expands the mutational spectrum of theRECQL4 gene and enriches the phenotype spectrum of Chinese RTS patients. Our information can assist the patient's parents in making informed decisions regarding their future pregnancies. This case offers a new perspective for clinicians to consider whether to perform prenatal diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 23, 2023 Category: Genetics & Stem Cells Authors: Juan Zeng, Jiayi Li, Yuwei Liu, Rui Liang, Lin Wang, Qing Zhou, Jinghua Sun, Zhongzhen Liu, Wen ‐Jing Wang, Sujun Zhu Tags: CLINICAL REPORT Source Type: research

Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes
ConclusionNF1 is a risk factor for hypertension. Despite the recognized risk for secondary hypertension, essential hypertension is the predominant type in NF1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 22, 2023 Category: Genetics & Stem Cells Authors: Niina Loponen, Heli Yl ä‐Outinen, Roope A. Kallionpää, Mikko Valtanen, Kari Auranen, Hannu Järveläinen, Sirkku Peltonen, Juha Peltonen Tags: ORIGINAL ARTICLE Source Type: research

Mutation spectrum of thalassemia among pre ‐pregnant adults in the Jiangsu Province by capillary electrophoresis‐based multiplex PCR assay
ConclusionThe Chinese population from different regions presented comparable mutation spectrum of thalassemia, and the SNaPshot/HLPA technique may serve as a capable assay for a routine genetic test in clinical practice with its accurate, rapid, and inexpensive advantage. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 19, 2023 Category: Genetics & Stem Cells Authors: Binbin Shao, Yuguo Wang, Jingjing Zhang, Yan Wang, Juan Tan, Lulu Wang, Ping Hu, Jianxin Tan, Zhengfeng Xu Tags: ORIGINAL ARTICLE Source Type: research

Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report
ConclusionOur results broaden the known mutational spectrum and possible clinical phenotype ofFBP1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 19, 2023 Category: Genetics & Stem Cells Authors: Bin Xin, Haiming Chen, Tianyi Liu, Yue Wu, Qingyang Hu, Xue Dong, Zhong Li Tags: CLINICAL REPORT Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 16, 2023 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Germline mutations in pediatric cancer cohort with mixed ‐ancestry Mexicans
ConclusionsThis report identifies potential genetic risk factors and provides a better understanding of the underlying mechanisms of childhood cancer in this population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 14, 2023 Category: Genetics & Stem Cells Authors: Oscar Alonso ‐Luna, Gabriela E. Mercado‐Celis, Jorge Melendez‐Zajgla, Rodrigo Barquera, Marta Zapata‐Tarres, Luis Enrique Juárez‐Villegas, Elvia Cristina Mendoza‐Caamal, Elianeth Rey‐Helo, Socorro Aida Borges‐Yañez Tags: ORIGINAL ARTICLE Source Type: research