抄録
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.
| 元の言語 | English |
|---|---|
| ページ（範囲） | 649-653 |
| ページ数 | 5 |
| ジャーナル | British Journal of Dermatology |
| 巻 | 148 |
| 発行部数 | 4 |
| DOI | |
| 出版物ステータス | Published - 01-04-2003 |
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All Science Journal Classification (ASJC) codes
- Dermatology
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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.
：: British Journal of Dermatology, 巻 148, 番号 4, 01.04.2003, p. 649-653.研究成果: Article
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.
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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 -