Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma

Abstract

Recently, mutations of keratin 1 gene (KRT1) and keratin 10 gene (KRT10) have been reported in various patients with bullous congenital ichthyosiform erythroderma (BCIE). The substitution of arginine (R) to histidine (H) at amino acid residue 156 (R156H) of coiled 1A region is one of the most frequent mutations of KRT10. In this study, we searched for a mutation in KRT1 and KRT10 in a Japanese family with BCIE and detected mutation R156H in KRT10. Our search led to the detection of R156H. This mutation was not detected in 50 normal individuals. These results confirmed that codon 156 is a frequently mutated site, and that R156H in KRT10 is likely also to be a mutation hotspot in Japanese patients with BCIE.

Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event

“…The type I and II keratin gene clusters have been localized to chromosomes 17q and 12q 11 . Although an arginine to histidine base substitution at position 10 in keratin 10's 1A segment of the rod domain is the most common mutation causing epidermolytic hyperkeratosis, many other point mutations have been identified 12–17 . Keratins are expressed as intermediate filament protein pairs in a tissue‐specific and differentiation‐specific fashion 18,19 .…”

“…11 Although an arginine to histidine base substitution at position 10 in keratin 10's 1A segment of the rod domain is the most common mutation causing epidermolytic hyperkeratosis, many other point mutations have been identified. [12][13][14][15][16][17] Keratins are expressed as intermediate filament protein pairs in a tissue-specific and differentiation-specific fashion. 18,19 Errors in their formation may lead to clumped keratin filaments, keratinocyte fragility, and cytolysis.…”