Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

Ear and Hearing
Eline van BeelenH P M Kunst

Abstract

Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in a Dutch family, causing DFNA10. This study is focused on characterizing the hearing impairment in this family. Whole exome sequencing was performed in the proband. In addition, peripheral blood samples were collected from 23 family members, and segregation analyses were performed. All participants underwent otorhinolaryngological examinations and pure-tone audiometry, and 12 participants underwent speech audiometry. In addition, an extended set of audiometric measurements was performed in five family members to evaluate the functional status of the cochlea. Vestibular testing was performed in three family members. Two individuals underwent echocardiography to evaluate the nonsyndromic phenotype. The authors present a Dutch family with a truncating mutation in EYA4 causing a mid-frequency hearing impairment. This mutation (c.464del) leads to a frameshift and a premature stop codon (p.Pro155fsX). This mutation is the most N-terminal mutation in EYA4 found to date. In addition, a missense mutation, predicted to be deleterious...Continue Reading

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Citations

Apr 30, 2019·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jack BirkenbeuelHamid R Djalilian
May 19, 2019·BMC Medical Genetics·Lukas VargaDaniela Gasperikova
Sep 28, 2017·Orphanet Journal of Rare Diseases·Nobuko YamamotoTatsuo Matsunaga
Aug 30, 2018·Human Genome Variation·Satoko AbeShin-Ichi Usami
Apr 12, 2020·Scientific Reports·Matias MorínM A Moreno Pelayo
Aug 21, 2018·Neural Plasticity·Songqun HuLuping Zhang
May 15, 2019·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jack BirkenbeuelHamid R Djalilian
Jul 19, 2019·Hearing Research·Anne G M SchilderHelen Blackshaw
Apr 17, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Takashi IshinoRina Watanabe

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