中华耳科学杂志2025，Vol.23Issue(5)：625-629,5.DOI:10.3969/j.issn.1672-2922.2025.05.001
一个非综合征性耳聋家系的遗传学分析
Genetic Analysis of A Pedigree with Non-Syndromic Hearing Loss
摘要
Abstract
Objective To identify genetic etiology in a family with nonsyndromic deafness.Methods Pedigree data were collection for pedigree construction.Second-generation sequencing and Sanger validation were performed,and suspected pathogenic loci in this family were analyzed via co-isolation.Results All 8 patients in this family had non-syndromic deafness.The proband showed a complex heterozygous c.A4484T/c.A4510G mutation in the TRIOBP gene,while patient Ⅱ-6 carried a heterozygous c.A4484T mutation and patient Ⅱ-7 showed a complex heterozygous c.A4510G/c.G59T mutation.No report on pathogenicity of these variants could be found in the literature or existing databases.In addition,patients Ⅱ-6,Ⅲ-4 and Ⅲ-6 demonstrated heterozygous c.T2615C and c.3202-5T>C mutations in the CHD7 gene and patients Ⅱ-6 and Ⅲ-4 showed heterozygous c.G5312A and c.C6250T mutations in the CHD23 gene.Conclusion New potentially pathogenic loci were identified for the first time in this family with nonsyndromic deafness,providing clues of genetic etiology,although the causes of deafness in other members in this family require further study.关键词
遗传性耳聋/耳聋基因/TRIOBP基因/致病性变异Key words
hereditary deafness/deafness genes/TRIOBP gene/pathogenic variants引用本文复制引用
周虹,张建庭,高建军,郭刚,段宏..一个非综合征性耳聋家系的遗传学分析[J].中华耳科学杂志,2025,23(5):625-629,5.基金项目
内蒙古自治区科技计划项目(2021GG0190) （2021GG0190）
内蒙古自治区科技计划项目(2022YFSH0037) （2022YFSH0037）
内蒙古自治区自然科学基金项目(2023LHMS08063) （2023LHMS08063）
公立医院科研联合基金科技项目(2024GLLH0333) （2024GLLH0333）
