Analysis of Gene Mutation in Two Pedigrees Affected with Non-syndromic Deafness
WANG Li
REN Zengguo
YANG Ke
QIN Litao
LOU Guiyu
GUO Qiannan
ZHANG Bing
HUO Xiaodong
LIAO Shixiu
LIU Hongjian
Abstract：Objective To confirm the mechanism of the disease in two families with non-syndromic deafness.Genetic counseling was carried out on this basis.Methods Collect clinical data of 29 patients from 2 deaf families who visited the Genetic Counseling Clinic of Henan Provincial People's Hospital from March 2020 to December 2021.DNA was extracted from the peripheral blood of probands and related members for high-throughput sequencing and Sanger sequencing.Pathogenicity analysis was performed on the detected gene mutations.Results The first reported OSBPL2 c.564_565 insG mutation was found in family 1,and the first reported POU3F4 c.520G＞T mutation was iden-tified in family 2.According to the diagnostic criteria of the American College of Medical Genetics and Genomics(AC-MG)guidelines,all the above mutations are pathogenic mutations and conform to genotype-phenotype co-segregation.Conclusion The results of genetic testing provide a strong basis for genetic counseling.These first reported mutations enriched the human deafness gene mutation database.The results of family 1 can be used as one of the clinical evidences that OSBPL2 gene is associated with the development of deafness.
Keywords：Non-syndromic deafnessWhole exome sequencingOSBPL2 genePOU3F4 gene
Publication Date：2024-04-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 183-187 )