A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)

Nicholas J Lench; Alexander F Markham; Robert F Mueller; David P Kelsell; Richard J. H Smith; Patrick J Willems; Isabelle Schatteman; Hilde Capon; Paul J Van de Heyning; Guy Camp

doi:10.1136/JMG.35.2.151

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A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)

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A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)

Nicholas J Lench, Alexander F Markham, Robert F Mueller, David P Kelsell, Richard J. H Smith, Patrick J Willems, Isabelle Schatteman, Hilde Capon, Paul J Van de Heyning and Guy Camp

Journal of medical genetics, Vol.35(2), pp.151-152

02/01/1998

DOI: 10.1136/JMG.35.2.151

PMCID: PMC1051221

PMID: 9507396

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Abstract

We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically and geographically distinct populations. This is an important observation since it will help to determine the overall contribution of connexin 26 mutations to autosomal deafness in different populations.

otorhinolaryngologic diseases

Research Article

Details

Title: Subtitle: A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)
Creators: Nicholas J Lench
Alexander F Markham
Robert F Mueller
David P Kelsell
Richard J. H Smith
Patrick J Willems
Isabelle Schatteman
Hilde Capon
Paul J Van de Heyning
Guy Camp
Resource Type: Journal article
Publication Details: Journal of medical genetics, Vol.35(2), pp.151-152
DOI: 10.1136/JMG.35.2.151
PMID: 9507396
PMCID: PMC1051221
NLM abbreviation: J Med Genet
ISSN: 0022-2593
eISSN: 1468-6244
Language: English
Date published: 02/01/1998
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: 9984006413902771

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