Identification and genetic analysis of a novel nonsense variant in EYA1 gene in a family with bran-chio-otic syndrome
10.3969/j.issn.1006-7299.2025.04.006
- VernacularTitle:一个鳃耳综合征家系EYA1基因新的无义突变的鉴定及遗传学分析
- Author:
Qiong LI
1
;
Pengfei LIANG
1
;
Shujuan WANG
1
;
Wei LI
1
;
Jian WANG
1
;
Jianhua QIU
1
;
Dingjun ZHA
1
Author Information
1. 中国人民解放军空军军医大学第一附属医院耳鼻咽喉头颈外科(西安 110032)
- Publication Type:Journal Article
- Keywords:
Branchio-otic syndrome;
EYA1 gene;
Nonsense variant;
Hereditary deafness
- From:
Journal of Audiology and Speech Pathology
2025;33(4):328-332
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the pathogenic gene and variant for a family with branchio-otic syndrome.Methods The clinical data of this family were collected,and the peripheral blood was extracted for deafness gene NGS panel analysis.Pathogenic variation detected was verified by Sanger sequencing.Results The family contained 17 members in three-generations,3 of whom exhibited autosomal dominant,hearing loss,preauricular fistula and branchial cleft fistula,which were in accordance with the clinical diagnosis criteria of branchio-otic syndrome.A no-vel heterozygous variant c.963dupT(p.E322X)in EYA1 gene was identified,which co-segregated with the branchi-o-otic syndrome phenotype in the family.The variant was a nonsense variant resulting in the premature appearance of the stop codon.According to the American College of Medical Genetics and Genomics(ACMG)guidelines and the criteria,the variant was classified as pathogenic.Conclusion We identified a novel pathogenic variant EYA1:c.963dupT(p.E322X)in a family with branchio-otic syndrome.
