A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis

Nomura, Kazuo; Meng, Xianmin; Umeki, Kaoru; Tamai, Ikumi; Sawamura, Daisuke; Hashimoto, Isao; Kikuchi, Tomoko

doi:10.1007/bf02766925

Cited by 5 publications

(6 citation statements)

References 11 publications

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“…We confirmed this point mutation by digesting the patient DNA with AciI. The mutation at codon 156 was demonstrated to be not a common polymorphism in the Japanese population by Nomura et al (6). We examined DNA samples from 10 healthy, unrelated Japanese individuals and found no mutations at codon 156.…”

Section: Discussionsupporting

confidence: 68%

A Keratin 10 Gene Mutation (Arg156Cys) in a Japanese Patient with Bullous Congenital Ichthyosiform Erythroderma

Saeki

Hattori

Mitsui

et al. 2002

The Journal of Dermatology

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We described a 19-year old Japanese female with bullous congenital ichthyosiform erythroderma (BCIE) and examined the keratin gene mutation. Physical examination disclosed generalized erythema, ichthyosiform skin with scales, and erosions without palmoplantar keratoderma. Histological examination revealed hyperkeratosis with vacuolar degeneration in the granular layer of the epidermis. Sequence analysis demonstrated a C to G transition at the first position of codon 156 in the keratin 10 gene. The amino acid at codon 156 was deduced to have changed from arginine to cystine. Substitution from arginine to cysteine at codon 156 of the K 10 gene is assumed to be fatal for keratin filament assembly regardless of racial or ethnic difference.

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Section: Discussionsupporting

confidence: 68%

A Keratin 10 Gene Mutation (Arg156Cys) in a Japanese Patient with Bullous Congenital Ichthyosiform Erythroderma

Saeki

Hattori

Mitsui

et al. 2002

The Journal of Dermatology

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“…According to our review of the pertinent published work, and of the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php), codon 156 is in the highly conserved helix initiation motif of KRT10 9 . However, the residual position could be one of the mutational hot spots for mutagenesis by CpG methylation and deamination in patients with EHK 10 .…”

Section: Discussionmentioning

confidence: 99%

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis

Haruna

Suga

Mizuno

et al. 2007

The Journal of Dermatology

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A 37-year-old Japanese male presented to us with persistent asteatotic skin with mild erythema on the trunk and extremities. Skin biopsy from the left knee showed marked epidermal acanthosis and hyperkeratosis, and milder granular degeneration. Ultrastructural analysis revealed clumping of the keratin filaments within suprabasal keratinocytes of the epidermis. Following direct sequencing, we found a single nucleotide substitution in one allele at the residue position 466 of the 1A rod domain segment (CGC to TGC, arginine to cysteine; R156C) in keratin 10. Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case.

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“…In 1997, Nomura et al 15 . reported a case of R156H mutation of KRT10 in a Japanese patient with epidermolytic hyperkeratosis, which was one of the first reports of such a mutation in Japan.…”

Section: Discussionmentioning

confidence: 99%

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

Mayuzumi

Shigihara²,

Ikeda³

et al. 2000

Acad Dermatol Venereol

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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.

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A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis

Cited by 5 publications

References 11 publications

A Keratin 10 Gene Mutation (Arg156Cys) in a Japanese Patient with Bullous Congenital Ichthyosiform Erythroderma

A Keratin 10 Gene Mutation (Arg156Cys) in a Japanese Patient with Bullous Congenital Ichthyosiform Erythroderma

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis

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

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