Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma
MB Dua-Awereh, Y Shimomura, L Kraemer… - Journal of …, 2009 - Elsevier
BACKGROUND: Striate palmoplantar keratoderma (SPPK; OMIM# 148700) is a rare
autosomal dominant genodermatosis characterized by linear hyperkeratosis on the digits
and hyperkeratosis on the palms and soles. SPPK is known to be caused by heterozygous
mutations in either the desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1)
genes. OBJECTIVE: To define the molecular basis of SPPK in five Pakistani families
showing a clear autosomal dominant inheritance pattern of SPPK. METHODS: Based on …
autosomal dominant genodermatosis characterized by linear hyperkeratosis on the digits
and hyperkeratosis on the palms and soles. SPPK is known to be caused by heterozygous
mutations in either the desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1)
genes. OBJECTIVE: To define the molecular basis of SPPK in five Pakistani families
showing a clear autosomal dominant inheritance pattern of SPPK. METHODS: Based on …