Identifications of the Novel Mutants on CDH23 Gene in a Family with Non-syndromic Hereditary Deafness
10.3969/j.issn.1006-7299.2025.01.009
- VernacularTitle:一个CDH23基因新型复合杂合突变导致的耳聋家系分析
- Author:
Yi SUN
1
;
Yutong GE
1
;
Yalin LIU
1
;
Qingya HAN
1
;
Hong ZHENG
1
Author Information
1. 山东省康复医院(济南 250109)
- Publication Type:Journal Article
- Keywords:
CDH23 gene;
Hereditary deafness;
Gene sequencing;
Mutation detection
- From:
Journal of Audiology and Speech Pathology
2025;33(1):45-49
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the etiology of a Chinese family with two cases of recessive non-syndromic hearing loss.Methods The clinical data of the family were collected.DNA was extracted from venous blood sam-ples,and whole-exome sequencing were performed to analyze potential causative deafness genes.Sanger sequencing was performed to verify the gene variants.Results There were 5 people among two generations in this family.The proband(Ⅱ-2,9 years old)and her brother(Ⅱ-3)had sensori-neural hearing loss,while their parents had normal hearing.The whole-exome high-throughput sequencing found that the patient carried two mutations in the CDH23 gene:c.4762C＞T(p.ARG1588TRP)and c.6604G＞A(p.ASP2202ASN).According to the American College of medical genetics and genomics(ACMG)genetic variation classification standards and guidelines,both c.6604G＞A and c.4762C＞T variants were identified as pathogenic.Conclusion The new compound heterozygous mutations c.4762C＞T and c.6604G＞A in the CDH23 gene are highly likely to be the causative factors for deafness in this family.
