A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10

Ishii, Naomi; Hamada, Takahiro; Yasumoto, Shinichiro; Hashimoto, Teizo

doi:10.1111/j.1365-2230.2007.02661.x

Cited by 3 publications

(1 citation statement)

References 5 publications

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“…This missense change occurs within the helix initiation motif of keratin 10, a highly conserved region critical to keratin filament assembly through interactions with the 2B segment of neighbouring molecules, and therefore mutations in this region are likely to lead to a deleterious clinical phenotype . A different amino acid substitution in the same residue (c.457C>G; p.Leu153Val) has been identified previously in two unrelated Japanese pedigrees with generalized EI, but substitution to methionine is a new finding. The heterozygous mutation p.Leu153Met was detected in all affected family members in our pedigree; it was not present in DNA from the unaffected family member III‐1, nor in 1400 ethnically matched control chromosomes.…”

Section: Reportmentioning

confidence: 94%

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

et al. 2015

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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.

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Section: Reportmentioning

confidence: 94%