Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

Sigrid Wayne; Nahid G Robertson; Frank Declau; Nancy Chen; Kristien Verhoeven; Sai Prasad; Lisbeth Tranebjärg; Cynthia C Morton; Allen F Ryan; Guy Van Camp; Richard J H Smith

doi:10.1093/hmg/10.3.195

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Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

Journal article

Open access

Peer reviewed

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

Sigrid Wayne, Nahid G Robertson, Frank Declau, Nancy Chen, Kristien Verhoeven, Sai Prasad, Lisbeth Tranebjärg, Cynthia C Morton, Allen F Ryan, Guy Van Camp, …

Human molecular genetics, Vol.10(3), pp.195-200

02/01/2001

DOI: 10.1093/hmg/10.3.195

PMID: 11159937

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Abstract

We identified Eyes absent 4 (EYA4), a member of the vertebrate Eya family of transcriptional activators, as the causative gene of postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. In two unrelated families from Belgium and the USA segregating for deafness at this locus, we found different mutations in EYA4, both of which create premature stop codons. Although EYA proteins interact with members of the SIX and DACH protein families in a conserved network that regulates early embryonic development, this finding shows that EYA4 is also important post-developmentally for continued function of the mature organ of Corti.

Mutation

Cochlea - embryology

Deafness - genetics

Alternative Splicing

Humans

Male

RNA, Messenger - metabolism

Polymorphism, Single-Stranded Conformational

In Situ Hybridization

Cochlea - metabolism

DNA Mutational Analysis

Base Sequence

Trans-Activators - genetics

Mice, Inbred CBA

Female

RNA, Messenger - genetics

Hearing Loss, Sensorineural - pathology

Rats

Chromosome Mapping

Hearing Loss, Sensorineural - genetics

Rats, Sprague-Dawley

Chromosomes, Human, Pair 6 - genetics

DNA - genetics

Deafness - pathology

DNA - chemistry

Ear, Inner - metabolism

Animals

Pedigree

Age of Onset

Mice

Polymorphism, Single Nucleotide

Details

Title: Subtitle: Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
Creators: Sigrid Wayne - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology--Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
Nahid G Robertson
Frank Declau
Nancy Chen
Kristien Verhoeven
Sai Prasad
Lisbeth Tranebjärg
Cynthia C Morton
Allen F Ryan
Guy Van Camp
Richard J H Smith
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.10(3), pp.195-200
DOI: 10.1093/hmg/10.3.195
PMID: 11159937
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: 5-T32-DC00040 / NIDCD NIH HHS DC03544 / NIDCD NIH HHS DC03402 / NIDCD NIH HHS I01 BX001205 / BLRD VA
Language: English
Date published: 02/01/2001
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006407102771

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