Low‐level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission

Low‐level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission

Abstract Background Nicolaides–Baraitser syndrome (NCBRS) is a severe neurodevelopmental disorder with multiple abnormalities. To date, all pathogenic variants in SMARCA2 causing NCBRS are de novo and most are missense variants located in the ATPase domain of SMARCA2 protein. Methods In this study,...

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Bibliographic Details
Main Authors: Nina Pan, Songchang Chen, Xiaoqiang Cai, Jianli Li, Tao Yu, He‐feng Huang, Jinglan Zhang, Chenming Xu
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
amplicon sequencing
germline mosaicism
Nicolaides–Baraitser syndrome
QLQ domain
SMARCA2 gene
Online Access:https://doi.org/10.1002/mgg3.1763

Internet

https://doi.org/10.1002/mgg3.1763

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