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Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10

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Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. / Abdul-Wahab, A; Takeichi, T; Liu, L; Stephens, C; Akiyama, M; McGrath, J A.

In: Clinical and Experimental Dermatology, 04.09.2015.

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Harvard

Abdul-Wahab, A, Takeichi, T, Liu, L, Stephens, C, Akiyama, M & McGrath, JA 2015, 'Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10', Clinical and Experimental Dermatology. https://doi.org/10.1111/ced.12751

APA

Abdul-Wahab, A., Takeichi, T., Liu, L., Stephens, C., Akiyama, M., & McGrath, J. A. (2015). Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. Clinical and Experimental Dermatology. https://doi.org/10.1111/ced.12751

Vancouver

Abdul-Wahab A, Takeichi T, Liu L, Stephens C, Akiyama M, McGrath JA. Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. Clinical and Experimental Dermatology. 2015 Sep 4. https://doi.org/10.1111/ced.12751

Author

Abdul-Wahab, A ; Takeichi, T ; Liu, L ; Stephens, C ; Akiyama, M ; McGrath, J A. / Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. In: Clinical and Experimental Dermatology. 2015.

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@article{990734202f704614a3b2418e1a6e1fb8,
title = "Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10",
abstract = "Mutations in the keratin 10 gene (KRT10) have been shown to underlie several forms of epidermolytic ichthyosis (EI), including generalized, annular and naevoid variants. We investigated an autosomal dominant pedigree with ichthyosis in which there was intrafamilial clinical heterogeneity, with the affected individual family members presenting with features of either erythrokeratoderma progressiva, annular EI, localized or superficial EI, or more generalized EI. Sanger sequencing identified a new heterozygous missense mutation (c.457C>A; p.Leu153Met) in KRT10 in all affected individuals. No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family. Our findings illustrate the intrafamilial variability in phenotype and diverse clinical presentations that can occur in EI resulting from a single mutation in KRT10.",
author = "A Abdul-Wahab and T Takeichi and L Liu and C Stephens and M Akiyama and McGrath, {J A}",
note = "{\textcopyright} 2015 British Association of Dermatologists.",
year = "2015",
month = sep,
day = "4",
doi = "10.1111/ced.12751",
language = "English",
journal = "Clinical and Experimental Dermatology",
issn = "0307-6938",
publisher = "Wiley-Blackwell",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10

AU - Abdul-Wahab, A

AU - Takeichi, T

AU - Liu, L

AU - Stephens, C

AU - Akiyama, M

AU - McGrath, J A

N1 - © 2015 British Association of Dermatologists.

PY - 2015/9/4

Y1 - 2015/9/4

N2 - Mutations in the keratin 10 gene (KRT10) have been shown to underlie several forms of epidermolytic ichthyosis (EI), including generalized, annular and naevoid variants. We investigated an autosomal dominant pedigree with ichthyosis in which there was intrafamilial clinical heterogeneity, with the affected individual family members presenting with features of either erythrokeratoderma progressiva, annular EI, localized or superficial EI, or more generalized EI. Sanger sequencing identified a new heterozygous missense mutation (c.457C>A; p.Leu153Met) in KRT10 in all affected individuals. No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family. Our findings illustrate the intrafamilial variability in phenotype and diverse clinical presentations that can occur in EI resulting from a single mutation in KRT10.

AB - Mutations in the keratin 10 gene (KRT10) have been shown to underlie several forms of epidermolytic ichthyosis (EI), including generalized, annular and naevoid variants. We investigated an autosomal dominant pedigree with ichthyosis in which there was intrafamilial clinical heterogeneity, with the affected individual family members presenting with features of either erythrokeratoderma progressiva, annular EI, localized or superficial EI, or more generalized EI. Sanger sequencing identified a new heterozygous missense mutation (c.457C>A; p.Leu153Met) in KRT10 in all affected individuals. No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family. Our findings illustrate the intrafamilial variability in phenotype and diverse clinical presentations that can occur in EI resulting from a single mutation in KRT10.

U2 - 10.1111/ced.12751

DO - 10.1111/ced.12751

M3 - Article

C2 - 26338057

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

SN - 0307-6938

ER -

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