Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

Shinichi Yotsumoto, T. Hashiguchi, X. Chen, N. Ohtake, Akiko Yagami, H. Akamatsu, K. Matsunaga, S. Shiraishi, H. Miura, J. Adachi, T. Kanzaki

Research output: Contribution to journalArticle

65 Citations (Scopus)

Abstract

Background: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. Objectives: To define the GJB2 mutations in three Japanese patients with KID syndrome. Methods: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis. Results: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. Conclusions: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.

Original languageEnglish
Pages (from-to)649-653
Number of pages5
JournalBritish Journal of Dermatology
Volume148
Issue number4
DOIs
Publication statusPublished - 01-04-2003

Fingerprint

Mutation
Genes
Germ-Line Mutation
Endonucleases
DNA
Missense Mutation
Connexin 26
Keratitis-Ichthyosis-Deafness Syndrome
Digestion
Databases

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Yotsumoto, Shinichi ; Hashiguchi, T. ; Chen, X. ; Ohtake, N. ; Yagami, Akiko ; Akamatsu, H. ; Matsunaga, K. ; Shiraishi, S. ; Miura, H. ; Adachi, J. ; Kanzaki, T. / Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. In: British Journal of Dermatology. 2003 ; Vol. 148, No. 4. pp. 649-653.
@article{0413a1ca06094889983ee1cf737b7fe4,
title = "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome",
abstract = "Background: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. Objectives: To define the GJB2 mutations in three Japanese patients with KID syndrome. Methods: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis. Results: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. Conclusions: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.",
author = "Shinichi Yotsumoto and T. Hashiguchi and X. Chen and N. Ohtake and Akiko Yagami and H. Akamatsu and K. Matsunaga and S. Shiraishi and H. Miura and J. Adachi and T. Kanzaki",
year = "2003",
month = "4",
day = "1",
doi = "10.1046/j.1365-2133.2003.05245.x",
language = "English",
volume = "148",
pages = "649--653",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "4",

}

Yotsumoto, S, Hashiguchi, T, Chen, X, Ohtake, N, Yagami, A, Akamatsu, H, Matsunaga, K, Shiraishi, S, Miura, H, Adachi, J & Kanzaki, T 2003, 'Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome', British Journal of Dermatology, vol. 148, no. 4, pp. 649-653. https://doi.org/10.1046/j.1365-2133.2003.05245.x

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. / Yotsumoto, Shinichi; Hashiguchi, T.; Chen, X.; Ohtake, N.; Yagami, Akiko; Akamatsu, H.; Matsunaga, K.; Shiraishi, S.; Miura, H.; Adachi, J.; Kanzaki, T.

In: British Journal of Dermatology, Vol. 148, No. 4, 01.04.2003, p. 649-653.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

AU - Yotsumoto, Shinichi

AU - Hashiguchi, T.

AU - Chen, X.

AU - Ohtake, N.

AU - Yagami, Akiko

AU - Akamatsu, H.

AU - Matsunaga, K.

AU - Shiraishi, S.

AU - Miura, H.

AU - Adachi, J.

AU - Kanzaki, T.

PY - 2003/4/1

Y1 - 2003/4/1

N2 - Background: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. Objectives: To define the GJB2 mutations in three Japanese patients with KID syndrome. Methods: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis. Results: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. Conclusions: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.

AB - Background: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. Objectives: To define the GJB2 mutations in three Japanese patients with KID syndrome. Methods: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis. Results: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. Conclusions: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.

UR - http://www.scopus.com/inward/record.url?scp=0037565175&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037565175&partnerID=8YFLogxK

U2 - 10.1046/j.1365-2133.2003.05245.x

DO - 10.1046/j.1365-2133.2003.05245.x

M3 - Article

C2 - 12752120

AN - SCOPUS:0037565175

VL - 148

SP - 649

EP - 653

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 4

ER -