High-throughput screening for GJB2 mutations—its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations

Akemi Sugata; Kunihiro Fukushima; Ken-ichi Sugata; Syouichiro Fukuda; Nobuhiko Kimura; Mehmet Gunduz; Norio Kasai; Shinichi Usami; Richard J.H Smith; Kazunori Nishizaki

doi:10.1016/S0385-8146(02)00014-7

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High-throughput screening for GJB2 mutations—its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations

Journal article

Peer reviewed

High-throughput screening for GJB2 mutations—its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations

Akemi Sugata, Kunihiro Fukushima, Ken-ichi Sugata, Syouichiro Fukuda, Nobuhiko Kimura, Mehmet Gunduz, Norio Kasai, Shinichi Usami, Richard J.H Smith and Kazunori Nishizaki

Auris, nasus, larynx, Vol.29(3), pp.231-239

2002

DOI: 10.1016/S0385-8146(02)00014-7

PMID: 12167443

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Abstract

Objectives: Mutations in connexin26 ( GJB2) are one of the most frequent causes of prelingual hearing impairment. Several different types of one-base deletions in exon2 were the most common type of GJB2 mutation regardless of ethnicity, including 35delG in American–European populations, 235delC in Japanese population and 167delT in Ashkenazi Jewish population. Various types of one-base substitutions were also considered to be causative mutations of GJB2 associated hearing impairment. This article describes a rapid and high-throughput screening procedure for the detection of one-base deletion/substitution in GJB2 with less invasive sampling procedure in the implication for the clinical application. Methods: 53 hearing-impaired children and 50 healthy controls were admitted to take part in this study program. DNA samples obtained from buccal swab were used to amplify the exon2 of GJB2, and single run with an automated sequencer was used to identify the one-base deletion. Single-base substitutions were also screened by primer-extension procedure with dye terminators. The presence of both types of mutations was confirmed by direct sequence of the GJB2 exon2. Results: Two of 50 controls (4%) included one-base deletion in GJB2 as heterozygote. 14 of 53 hearing impaired cases (26.4%) contained deletion in GJB2 either as homozygote (five cases) or heterozygote (nine cases) form. Sequencing analysis of whole exon2 of GJB2 identified all these deletions as 235delC. Primer-extension analysis revealed additional mutations with single base substitutions in three cases with compound heterozygote with 235delC. Conclusions: Rapid screening procedure of GJB2 can be potentially useful for the identification of prelingual deafness.

Single nucleotide substitution

Connexin26

Screening method

GJB2

Non-syndromic hearing loss

Single nucleotide deletion

Details

Title: Subtitle: High-throughput screening for GJB2 mutations—its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations
Creators: Akemi Sugata - Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2-5-1 Shikata Cho, 700-8558 Okayama, Japan
Kunihiro Fukushima - Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2-5-1 Shikata Cho, 700-8558 Okayama, Japan
Ken-ichi Sugata - Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2-5-1 Shikata Cho, 700-8558 Okayama, Japan
Syouichiro Fukuda - Okayama Kanariya Gakuen, Okayama Hearing Training Center for Hearing Impaired Child, Okayama, Japan
Nobuhiko Kimura - Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2-5-1 Shikata Cho, 700-8558 Okayama, Japan
Mehmet Gunduz - Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2-5-1 Shikata Cho, 700-8558 Okayama, Japan
Norio Kasai - Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2-5-1 Shikata Cho, 700-8558 Okayama, Japan
Shinichi Usami - Department of Otolaryngology, Shinsyu University Medical School, Shinsyu, Japan
Richard J.H Smith - Department of Otolaryngology, Head and Neck Surgery, The University of Iowa, Iowa, Japan
Kazunori Nishizaki - Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2-5-1 Shikata Cho, 700-8558 Okayama, Japan
Resource Type: Journal article
Publication Details: Auris, nasus, larynx, Vol.29(3), pp.231-239
DOI: 10.1016/S0385-8146(02)00014-7
PMID: 12167443
NLM abbreviation: Auris Nasus Larynx
ISSN: 0385-8146
eISSN: 1879-1476
Publisher: Elsevier Ireland Ltd
Grant note: DOI: 10.13039/501100003478, name: Ministry of Health, Labour and Welfare; DOI: 10.13039/501100003606, name: Korea Foundation, award: 09470372; DOI: 10.13039/501100001700, name: Ministry of Education, Culture, Sports, Science and Technology
Language: English
Date published: 2002
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: 9984007196502771

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