Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness.
10.3760/cma.j.cn511374-20200609-00420
- Author:
Menglong FENG
1
;
Kai ZHOU
;
Lancheng HUANG
;
Fengzhu TANG
;
Shenhong QU
;
Qiutian LU
;
Ruichun CHEN
;
Fengti LI
Author Information
1. Graduate School of Guangxi University of Traditional Chinese Medicine, Nanning, Guangxi 530200, China. 1960491231@qq.com.
- Publication Type:Journal Article
- MeSH:
Deafness/genetics*;
Hearing Loss, Sensorineural/genetics*;
Heterozygote;
Humans;
Microfilament Proteins/genetics*;
Mutation;
Pedigree;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(5):454-457
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL).
METHODS:Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing.
RESULTS:Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.
CONCLUSION:Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.
