Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

D A Scott; M L Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C R Srisailapathy; S S Rosengren; A F Markham; R F Mueller; N J Lench; G Van Camp; R J Smith; V C Sheffield

doi:10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8

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Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

Journal article

Peer reviewed

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

D A Scott, M L Kraft, R Carmi, A Ramesh, K Elbedour, Y Yairi, C R Srisailapathy, S S Rosengren, A F Markham, R F Mueller, …

Human mutation, Vol.11(5), pp.387-394

1998

DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8

PMID: 9600457

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Abstract

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 locus or in which the ARNSHL phenotype cosegregated with markers from chromosome 13q12. Cx26 mutations were found in six of the seven families and included two previously described mutations (W24X and W77X) and two novel Cx26 mutations: a single base pair deletion of nucleotide 35 resulting in a frameshift and a C-to-T substitution at nucleotide 370 resulting in a premature stop codon (Q124X). We have developed and optimized allele-specific PCR primers for each of the four mutations to rapidly determine carrier and noncarrier status within families. We also have developed a single stranded conformational polymorphism (SSCP) assay which covers the entire Cx26 coding region. This assay can be used to screen individuals with nonsyndromic hearing loss for mutations in the CX26 gene.

Polymerase Chain Reaction

Mutation

Amino Acid Sequence

Sequence Deletion

Humans

Connexins - genetics

Male

Hearing Loss, Sensorineural - genetics

Genes, Recessive

Connexin 26

Hearing Loss, Sensorineural - ethnology

Polymorphism, Single-Stranded Conformational

Pedigree

Base Sequence

Midwestern United States - epidemiology

Alleles

Chromosomes, Human, Pair 13

Female

Details

Title: Subtitle: Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
Creators: D A Scott - Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
M L Kraft
R Carmi
A Ramesh
K Elbedour
Y Yairi
C R Srisailapathy
S S Rosengren
A F Markham
R F Mueller
N J Lench
G Van Camp
R J Smith
V C Sheffield
Resource Type: Journal article
Publication Details: Human mutation, Vol.11(5), pp.387-394
Publisher: United States
DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8
PMID: 9600457
ISSN: 1059-7794
eISSN: 1098-1004
Grant note: 1R01DC02842-01 / NIDCD NIH HHS HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS
Language: English
Date published: 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; Medical Genetics and Genomics; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9984006358302771

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