title: Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.
abstract: Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non‑syndromic progressive hearing impairment was conducted and assessed. Whole‑exome sequencing in combination with a co‑segregation analysis identified a novel missense mutation in EYA4 exon 15 (c.T1301A; p.I411K). The mutation segregated with the hearing loss of the family. This mutation was not identified in the databases of 1000 genome Project, dbSNP 130, HapMap and YH project or in matched controls. Bioinformatic analysis confirmed the pathogenic effects of this mutation. To the best of our knowledge, this is the first report to provide a description of a missense mutation in the EYA4 gene resulting in non‑syndromic hearing loss. Our results provide additional molecular and clinical information in order to gain improved understanding of the pathogenesis of EYA4 mutations and the genotype‑phenotype correlations of DFNA10 hearing loss.
authors.affiliation: Department of Otolaryngology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Minxing
authors.initials: M
authors.lastname: Tan
authors.affiliation: Department of Otolaryngology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Shen
authors.affiliation: Department of Biotechnology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Jun
authors.initials: J
authors.lastname: Yao
authors.affiliation: Department of Biotechnology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Qinjun
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Department of Biotechnology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Yajie
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Department of Biotechnology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Xin
authors.initials: X
authors.lastname: Cao
authors.affiliation: Department of Otolaryngology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Guangqian
authors.initials: G
authors.lastname: Xing
mesh_terms: D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D005192:Family Health; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D015534:Trans-Activators / Q000737:chemistry / Q000235:genetics*
chemical_list: C117736:EYA4 protein, human; D015534:Trans-Activators