EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families

Penghui Chen; Haijin Liu; Yun Lin; Jun Xu; Weidong Zhu; Hao Wu; Tao Yang

doi:10.1016/j.ijporl.2019.05.006

EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families

Int J Pediatr Otorhinolaryngol. 2019 Aug:123:141-145. doi: 10.1016/j.ijporl.2019.05.006. Epub 2019 May 10.

Authors

Penghui Chen¹, Haijin Liu², Yun Lin¹, Jun Xu¹, Weidong Zhu¹, Hao Wu³, Tao Yang⁴

Affiliations

¹ Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China.
² Department of Pediatric Surgery, The 1st Affiliated Hospital of Gannan Medical University, Jiangxi Province, China.
³ Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China. Electronic address: wuhao622@sina.cn.
⁴ Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China. Electronic address: yangtfxl@sina.com.

PMID: 31102969
DOI: 10.1016/j.ijporl.2019.05.006

Abstract

Objectives: Branchio-Oto (BO) syndrome is one of the common syndromic forms of hearing loss. In this study, we aimed to characterize the clinical and genetic features of BO syndrome in two Chinese Han deaf families.

Methods: The auditory and other BO-related clinical features of Family 1809 and Family 1974 were summarized. Targeted next-generation sequencing in 144 known deafness genes was performed in the probands. Co-segregation of the pathogenic mutations and the phenotype was confirmed by Sanger sequencing in the family members.

Results: Interfamilial and intrafamilial variations can be observed in the clinical phenotypes of BO syndrome in Family 1809 and 1974. A novel c.1493_1494insAT (p.Ile498PhefsTer*3) mutation and a previous reported c.967-2A>G mutation in EYA1 were identified as the pathogenic cause in Family 1974 and 1809, respectively.

Conclusion: Our results supported the heterogeneity of the genetic and phenotypic spectrum of BO syndrome. The recurrent c.967-2A>G in different ethnical groups suggested that it is a hot-spot mutation.

Keywords: Branchio-Oto syndrome; Chinese Hans; EYA1; Mutation; Targeted next-generation sequencing.

MeSH terms

Asian People / genetics*
Base Sequence
Branchio-Oto-Renal Syndrome / complications
Branchio-Oto-Renal Syndrome / genetics*
China
Female
Hearing Loss / complications
Hearing Loss / genetics*
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Male
Mutation / genetics*
Nuclear Proteins / genetics*
Pedigree
Phenotype
Protein Tyrosine Phosphatases / genetics*

Substances

Intracellular Signaling Peptides and Proteins
Nuclear Proteins
EYA1 protein, human
Protein Tyrosine Phosphatases