Analysis of the Genetic Characteristics of a Chinese Family With Otosclerosis

Author:

Zhang Yongli12ORCID,Tang Qi12,Xue Ruoyan12,Zhu Xiaohui12,Yang Hua12,Gao Zhiqiang12

Affiliation:

1. Department of Otolaryngology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Beijing, China

2. Translational Medicine Center, Peking Union Medical College Hospital, Beijing, China

Abstract

Background: Otosclerosis is a focal lesion of the inner ear. The role of genetic factors in the pathogenesis of otosclerosis has received increasing attention. We analyzed the clinical manifestations, inheritance pattern, and pathogenic genes in a family with otosclerosis. Methods: We collected clinical data and generated a family pedigree. High-throughput second-generation sequencing technology was used to identify candidate genes by performing whole-exome sequencing of 7 members of the family, and Sanger sequencing was performed to validate candidate gene mutations in the 7 family members. Results: Otosclerosis was characterized by autosomal dominant inheritance in this family. Whole-exome sequencing did not reveal mutation sites in known deafness-related genes. However, a c.2209A > G (p.T737A) mutation was detected in exon 6 of the SP1 gene, which is associated with the COL1A1 gene. This mutation was a pathogenic mutation, and Sanger sequencing confirmed that this mutation cosegregated with the clinical phenotype among the family members. Conclusions: The pattern of otosclerosis in this family is consistent with autosomal dominant inheritance, and the SP1 gene, harboring the c.2209A > G (p.T737A) mutation in exon 6, may be the causative gene of otosclerosis in this family.

Funder

National key research and development plan of China

National Natural Science Foundation of China

Natural Science Foundation of Beijing Municipality

Publisher

SAGE Publications

Subject

Otorhinolaryngology

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