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Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis
Author(s) -
Arin M. J.,
Longley M. A.,
Epstein E. H.,
Rothnagel J. A.,
Roop D. R.
Publication year - 2000
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1034/j.1600-0625.2000.009001016.x
Subject(s) - epidermolytic hyperkeratosis , keratin , biology , hyperkeratosis , keratin 6a , genetics , mutation , point mutation , gene , pathology , microbiology and biotechnology , intermediate filament , medicine , cytoskeleton , cell
Epidermolytic hyperkeratosis (EHK) is a hereditary skin disorder typified by blistering due to cytolysis. One in 100,000 individuals is affected by this autosomal‐dominant disease. The onset of the disease phenotype is typically at birth. Histological and ultrastructural examination of the epidermis shows a thickened stratum corneum and tonofilament clumping around the nucleus of suprabasal keratinocytes. Linkage studies localized the disease genes on chromosomes 12q and 17q which contain the type II and type I keratin gene clusters. Recently, several point mutations in the genes encoding the suprabasal keratins, K1 and K10, have been reported in EHK patients. We have investigated a large kindred affected by EHK and identified a new point mutation in the 2B region of keratin 1 (I107T), resulting from a T to C transition in codon 478.