Summary
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 previous reports of DSG1 mutations in SPPK, we performed direct sequencing of the DSG1 gene of all five families.
Results
Mutation analysis resulted in the identification of one recurrent mutation (p.R26X)
and four novel mutations (c.Ivs4-2A>G, c.515C>T, c.Ivs9-3C>G, and c.1399delA) in the
DSG1 gene. Each mutation is predicted to cause haploinsufficiency of DSG1 protein.
Conclusion
The results of our study further underscore the significance of the desmoglein gene
family in diseases of epidermal integrity.
Abbreviations:
SPPK (striate palmoplantar keratoderma), PTC (premature termination codon)Keywords
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Article info
Publication history
Published online: July 12, 2010
Accepted:
November 13,
2008
Received in revised form:
November 9,
2008
Received:
July 25,
2008
Identification
Copyright
© 2008 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
