Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene.
10.3760/cma.j.cn511374-20201210-00866
- VernacularTitle:一个
EYA1基因无义变异所致鳃-耳综合征家系的遗传学分析
- Author:
Rui HAN
1
,
2
;
Xiaoran LIU
;
Erdengqieqieke YE
;
Shuang WU
;
Jing ZHAO
;
Ling DUAN
;
Yan XIA
;
Jianbing DING
Author Information
1. Department of Prenatal Diagnosis, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China. Xia442375227@163.com
2. 1601379937@qq.com.
- Publication Type:Journal Article
- MeSH:
Branchio-Oto-Renal Syndrome;
China;
Humans;
Intracellular Signaling Peptides and Proteins/genetics*;
Mutation;
Nuclear Proteins/genetics*;
Pedigree;
Protein Tyrosine Phosphatases/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(4):374-377
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS).
METHODS:The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members.
RESULTS:The proband was found to harbor a c.1627C>T (p.Gln543Ter) nonsense variant of the EYA1 gene. Sanger sequencing confirmed that all of the 4 patients with the BOS phenotype from the pedigree have harbored the same heterozygous variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS+PP3+PP4).
CONCLUSION:The c.1627C>T (p.Gln543Ter) variant of the EYA1 gene probably underlay the BOS phenotype in this pedigree. Above finding has provided a basis for its clinical diagnosis.
