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Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner‐type epidermolysis bullosa simplex
Author(s) -
SAEKI Hidehisa,
NAKAMURA Kensuke,
TSUNEMI Yuichiro,
KOMINE Mayumi,
TAMAKI Kunihiko
Publication year - 2006
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2006.00160.x
Subject(s) - epidermolysis bullosa simplex , keratin 5 , keratin 14 , mutation , epidermolysis bullosa , gene , genetics , keratin 6a , biology , gene mutation , keratin , microbiology and biotechnology , intermediate filament , cell , transgene , genetically modified mouse , cytoskeleton
We describe a 19‐year‐old Japanese male with Köbner‐type epidermolysis bullosa simplex (EBS‐KB) with a novel keratin gene mutation. The patient developed blisters on the feet, palms, elbows and knees soon after birth. His father is similarly affected with blistering, but his mother and younger brother are not affected. Histological examination revealed that the primary separation in the blister occurred within the basal cell layer. Sequence analysis demonstrated an A‐to‐T transition at the second position of codon 158 in the keratin 5 (K5) gene. The amino acid at codon 158 was deduced to have changed from asparagine to valine. We identified a novel mutation (Asp158Val) in the H1 domain of the K5 gene in this Japanese patient with EBS‐KB. This is the first gene mutation report of EBS‐KB in the H1 domain of the K5 gene.