Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction

Branchiootic syndrome (BOS) is a rare, autosomal dominant syndrome characterized by malformations of the ear associated with hearing loss, second branchial arch anomalies, and the absence of renal anomalies. Herein, we report the case of an 8-year-old male patient with BOS. The proband also experien...

Full description

Bibliographic Details
Main Authors: Jun He, Ahmad Mahmoudi, Yu Gu, Jinfeng Fu, Qiulin Yuan, Wei Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
branchiootic syndrome
EYA1 gene mutation
whole exome sequencing
secretory otitis media
vestibular hypofunction
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1292085/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1292085/full

Similar Items