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Br J Dermatol. 2003 Apr;148(4):649-53.

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

Author information

  • 1Department of Dermatology, Kagoshima University Faculty of Medicine, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. syotsumo@m2.kufm.kagoshima-u.ac.jp

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.

PMID:
12752120
[PubMed - indexed for MEDLINE]
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