Prenatal diagnosis for autosomal recessive deafness 29 caused by CLDN14 gene compound heterozygous variants: a report of two pedigrees

VernacularTitle:CLDN14基因复合杂合变异所致常染色体隐性耳聋29型的产前诊断：2家系报告
Author: Hongfei KANG ¹ ; Jingjing LI ¹ ; Xiangdong KONG ¹
Author Information

1. 郑州大学第一附属医院妇产医学部遗传与产前诊断中心，郑州　450052
Publication Type:Journal Article
Keywords: Deafness; Genetic diagnosis; Prenatal diagnosis; Autosomal recessive inheritance; Claudin
From: Chinese Journal of Perinatal Medicine 2025;28(12):1146-1149
CountryChina
Language:Chinese
Abstract: This study identified CLDN14 gene variants in two Chinese Han pedigrees with autosomal recessive deafness 29 through whole-exome sequencing. The proband in pedigree 1 carried the known pathogenic variant c.301G>A (p.Gly101Arg) and a novel variant c.370delC (p.Leu124Serfs*33), classified as pathogenic according to the American College of Medical Genetics and Genomics standards (PVS1+PS2+PM2). The proband in pedigree 2 carried two novel variants, c.51dupC (p.Met18Hisfs*142) and c.74_76delCCA (p.Thr25del), both classified as likely pathogenic. Short tandem repeat analysis confirmed the familial relationship in pedigree 1. Prenatal diagnosis revealed that the fetuses in both pedigrees had inherited only a single heterozygous variant. Postnatal hearing screening in pedigree 1 and a 3-year follow-up in pedigree 2 revealed no abnormalities.