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Keratin‐9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family
Author(s) -
Li M.,
Yang L.J.,
Hua H.K.,
Zhu X.H.,
Dai X.Y.
Publication year - 2009
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2007.02384.x
Subject(s) - genetics , exon , mutation , transition (genetics) , gene , chinese family , palmoplantar keratoderma , biology
Summary Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9 . We studied a four‐generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T→C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.