Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2

Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2

ObjectiveThis study aims to analyze a genetic family with the GJB2 gene c.551G>A (p.R184Q) variant, exploring the relationship between its genotype and clinical phenotype, and summarizing the inheritance pattern and clinical features associated with this locus.MethodsDetailed medical history...

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Bibliographic Details
Main Authors: Xuxu Zhao, Huan Chi, Yan Bai, Yu Lu, Wenyu Xiong, Houyong Kang, Cheng Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Pediatrics
Subjects:
GJB2
hereditary deafness
genotype-phenotype association
clinical characteristic analysis
congenital deafness
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1514369/full
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