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

• Published in: Frontiers in pediatrics Vol. 13; p. 1514369
• Main Authors: Zhao, Xuxu, Chi, Huan, Bai, Yan, Lu, Yu, Xiong, Wenyu, Kang, Houyong, Zhang, Cheng
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 23.04.2025
• Subjects: clinical characteristic analysis; congenital deafness; genotype-phenotype association; GJB2; hereditary deafness; Pediatrics; clinical characteristic analysis; genotype-phenotype association; GJB2; hereditary deafness; congenital deafness

This study aims to analyze a genetic family with the 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. Detailed medical history collection and physical...