G2Cdb::Human Disease report

Disease id
D00000249
Name
Striate keratoderma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001856 DSG1
desmoglein 1
Y (12930313) Nonsense (No) Y

References

  • A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.

    Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM and Zlotogorski A

    Department of Genetics and Development, Columbia University, New York, NY, USA.

    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.

    Funded by: NIAMS NIH HHS: P30-AR44535; PHS HHS: R01 44924

    Experimental dermatology 2003;12;4;523-7

Literature (1)

Pubmed - human_disease

  • A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.

    Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM and Zlotogorski A

    Department of Genetics and Development, Columbia University, New York, NY, USA.

    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.

    Funded by: NIAMS NIH HHS: P30-AR44535; PHS HHS: R01 44924

    Experimental dermatology 2003;12;4;523-7

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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