A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.
Striate keratodermas (PPKS) (OMIM 148700) are a rare group of autosomal dominant genodermatoses characterized by palmoplantar keratoderma typified by streaking hyperkeratosis along each finger and extending onto the palm of the hand. We report a four-generation kindred originating from Iran-Syria in which three members were affected with PPKS. Clinically, these patients present with hyperkeratotic palms and plantar plaques. Direct DNA sequencing analysis revealed a heterozygous C-to-A transversion at nt 395 of the DSG1 gene. This mutation converted a serine residue (TCA) in exon 5 to a nonsense mutation (TAA) designated S132X. The mutation identified in this study is a novel mutation in the DSG1 gene and extends the body of evidence implicating the desmoglein gene family in the pathogenesis of human skin disorders.
Kljuic
Ana
A
Department of Genetics and Development, Columbia University, New York, NY, USA.
Gilead
Leon
L
Martinez-Mir
Amalia
A
Frank
Jorge
J
Christiano
Angela M
AM
Zlotogorski
Abraham
A
D000328:Adult; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics*; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D051183:Desmoglein 1; D005260:Female; D006801:Humans; D007492:Iran / Q000208:ethnology; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D013593:Syria / Q000208:ethnology
D015820:Cadherins; D018389:Codon, Nonsense; D051183:Desmoglein 1; D004247:DNA