桑格测序
遗传学
生物
错义突变
外显子组测序
基因分型
微卫星
DNA测序
基因
全基因组测序
基因型
突变
基因组
等位基因
作者
Muhammad Bilal,Amir Hayat,Muhammad Umair,Asmat Ullah,Sundus Khawaja,Erum Malik,Margit Burmeister,Nousheen Bibi,Umm‐e‐Kalsoom,Muhammad Iqbal Memon,Sulman Basit,Wasim Ahmad,Bushra Khan
出处
期刊:Genetic Testing and Molecular Biomarkers
[Mary Ann Liebert]
日期:2020-09-01
卷期号:24 (9): 600-607
被引量:4
标识
DOI:10.1089/gtmb.2020.0024
摘要
Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of three consanguineous Pakistani families showing various types of SHFM-related features. Materials and Methods: Standard molecular methods, including whole-genome sequencing (WGS), whole-exome sequencing (WES), microsatellite markers-based genotyping, and Sanger sequencing were performed to search for the likely causative variants. Results: In family A, WES revealed a novel homozygous missense variant [c.338G>A, p.(Gly113Asp)] in the WNT10B gene. In family B, microsatellite-based genotyping followed by Sanger sequencing revealed a novel homozygous 13 base pairs deletion [c.884-896delTCCAGCCCCGTCT, p.(Phe295Cysfs*87)] in the same gene. In family C, WGS divulged a previously reported heterozygous missense variant [c.956G>A, p.(Arg319His)] in the TP63 gene. Conclusions: Mapping and sequencing genes and variants for severe skeletal disorders, such as SHRM, will facilitate establishing specific genotype-phenotype correlations and providing genetic counseling for the families suffering from such conditions.
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