Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

S Prasad; R A Cucci; G E Green; R J Smith

doi:10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4

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Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

Journal article

Peer reviewed

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

S Prasad, R A Cucci, G E Green and R J Smith

Human mutation, Vol.16(6), pp.502-508

12/2000

DOI: 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4

PMID: 11102979

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Abstract

Mutations in GJB2 are the most common cause of hereditary congenital hearing loss in many countries and are found in about half of persons with severe-to-profound congenital autosomal recessive non-syndromic hearing loss (ARNSHL). We report the results of GJB2 mutation screening in 209 consecutive persons with congenital deafness of indeterminate etiology using an allele-specific polymerase chain reaction assay, single-strand conformational polymorphism analysis, and direct sequencing. GJB2 allele variants were detected in 74 of 209 deaf individuals (35%). Over one-fourth of screened individuals were either homozygous (n=31) or heterozygous (n=24) for the 35delG mutation. Of those with the 35delG mutation, 51 (92.7%) were diagnosed with GJB2-related deafness. Nineteen persons were identified with other GJB2 allele variants - two novel deafness-causing mutations (R32C, 645-648delTAGA), one mutation of unknown significance (E47K), and one benign polymorphism (I128I). While these data enable health care professionals to provide parents and patients with improved genetic counseling data, difficulty still exists is determining whether some missense mutations compromise auditory function and are deafness-causing.

Hearing Loss, Sensorineural - congenital

Deafness - genetics

Humans

Connexins - genetics

Hearing Loss, Sensorineural - genetics

Mutation - genetics

Genetic Testing - methods

Deafness - diagnosis

Cysteine - genetics

Connexin 26

Genetic Variation

Hearing Loss, Sensorineural - diagnosis

Arginine - genetics

Alleles

Amino Acid Substitution - genetics

Connexins - blood

Deafness - congenital

Sequence Deletion - genetics

Details

Title: Subtitle: Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
Creators: S Prasad - Clinical Diagnostic Service, Molecular Otolaryngology Research Laboratories, Department of Otolaryngology - Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
R A Cucci
G E Green
R J Smith
Resource Type: Journal article
Publication Details: Human mutation, Vol.16(6), pp.502-508
DOI: 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4
PMID: 11102979
NLM abbreviation: Hum Mutat
ISSN: 1059-7794
eISSN: 1098-1004
Publisher: United States
Language: English
Date published: 12/2000
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: 9984007299802771

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