Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II.
10.3760/cma.j.cn511374-20200707-00498
- Author:
Kefeng TANG
1
;
Liyan JIANG
;
Juan YAO
;
Sheng YANG
;
Guosong SHEN
Author Information
1. Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China. 94612701@qq.com.
- Publication Type:Journal Article
- MeSH:
Child;
Exons;
Extracellular Matrix Proteins/genetics*;
Family;
Humans;
Introns;
United States;
Usher Syndromes/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(10):966-968
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect pathogenic variant in a child featuring Usher syndrome type II.
METHODS:Peripheral blood samples of the child and his parents were collected for the analysis of variants of hearing impairment-related genes. The findings were verified in 100 individuals with normal hearing.
RESULTS:The child was found to harbor compound heterozygous variants of the USH2A gene, namely c.8224-1G>C in intron 41 and c.5678C>G(p.Ser1893X) in exon 28, which were inherited respectively from his mother and father. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.8224-1G>C and c.5678C>G(p.Ser1893X) variants of USH2A gene were predicted to be pathogenic(PVS1+PM2+PM3).
CONCLUSION:The compound heterozygous variants c.8224-1G>C and c.5678C>G of the USH2A gene probably underlay the disease in this child. Above finding has enriched the spectrum of USH2A gene variants.
