Abstract:
: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.
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Arin MJ,Longley MA,Epstein EH Jr,Rothnagel JA,Roop DRdoi
10.1034/j.1600-0625.2000.009001016.xsubject
Has Abstractpub_date
2000-02-01 00:00:00pages
16-9issue
1eissn
0906-6705issn
1600-0625journal_volume
9pub_type
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