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GENATLAS PHENOTYPE
last update : 08-11-2010
Symbol PPKS1
Location 18q12.1
Name palmoplantar keratoderma (hyperkeratosis) striata, focal
Other name(s) keratoderma, palmoplantar, striate form I
Corresponding gene DSG1
Other symbol(s) SPPK, PPK4, SPPK1
Main clinical features
  • non epidermolytic, Brunauer-Fuhs-Siemens type
  • genodermatosis characterized by linear hyperkeratosis on the digits and hyperkeratosis on the palms and soles (PMID: 19157795))
    • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name desmoglein 1 (DGS1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein heterozygote mutations in the extracellular domain leading to a truncated protein (haploinsufficiency)
    insertion-deletion   truncated protein insertion/deletion, resulting in a truncated protein, a G to A transition in splice site of intron 2 causing exon 2 to exon 4 skipping
    insertion-deletion   truncated protein heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon
    Remark(s)