Genetic Analysis of A Pedigree with Non-Syndromic Hearing Loss
ZHOU Hong
ZHANG Jianting
GAO Jianjun
GUO Gang
DUAN Hong
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.
Keywords：hereditary deafnessdeafness genesTRIOBP genepathogenic variants
Publication Date：2025-08-20
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 625-629 )