Analysis of OTOGL gene variants in a child with moderate non-syndromic hearing loss.
10.3760/cma.j.cn511374-20200606-00414
- VernacularTitle:一例中度听力损失的非综合征耳聋患儿的
OTOGL基因变异分析
- Author:
Shumin REN
1
,
2
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@
2. net.
- Publication Type:Journal Article
- MeSH:
Child;
Deafness;
Family;
Genomics;
Humans;
Membrane Proteins/genetics*;
Mutation;
Pedigree;
Phenotype
- From:
Chinese Journal of Medical Genetics
2021;38(8):761-764
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with moderate non-syndromic hearing loss.
METHODS:Next generation sequencing was carried out for the child. Co-segregation of the phenotype and candidate variants was verified among his family members by Sanger sequencing.
RESULTS:The child was found to harbor biallelic variants of the OTOGL gene, namely c.2773C>T (p.Arg925Ter) and c.2826C>G (p.Tyr942Ter), which were respectively inherited from his phenotypically normal father and mother. Both variants were predicted to cause premature termination of protein synthesis and be disease causing by MutationTaster software. The c.2826C>G (p.Tyr942Ter) variant has not been recorded in the Human Gene Mutation Database. Based on the guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PM4+PP3+PP5 and PVS1+PM2+PM4+PP3, respectively).
CONCLUSION:The c.2773C>T (p.Arg925Ter) and c.2826C>G (p.Tyr942Ter) variants of the OTOGL gene probably underlay the hearing loss in this child.
