Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda
2014 (English)In: Acta Dermato-Venereologica, ISSN 0001-5555, E-ISSN 1651-2057, Vol. 94, no 6, 707-710 p.Article in journal (Refereed) Published
Palmoplantar keratoderma of the Gamborg-Nielsen type (PPK-GN) is a rare autosomal recessive skin disorder described in patients from Sweden. Mal de Meleda (MDM) is also a rare autosomal recessive inherited PPK first reported in 5 families from the island of Meleda. The 2 conditions phenotypically overlap and are characterised by palmoplantar erythematous hyperkeratotic plaques. The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1. In the present study we scrutinised individuals affected by PPK-GN for mutations in the SLURP1 gene and identified 2 different mutations. Fourteen Swedish patients were homozygous for a previously described mutation, c.43T>C, while one individual was a compound heterozygote with one copy of a novel mutation, c.280T>A, in addition to one copy of the c.43T>C mutation. Hereby we confirm that PPK-GN is an allelic variant of MDM.
Place, publisher, year, edition, pages
Medical Journals Limited , 2014. Vol. 94, no 6, 707-710 p.
SLURP1, mal de Meleda, palmoplantar keratoderma, Gamborg-Nielsen, missense mutation
Infectious Medicine Immunology in the medical area
IdentifiersURN: urn:nbn:se:umu:diva-96971DOI: 10.2340/00015555-1840ISI: 000344307900017OAI: oai:DiVA.org:umu-96971DiVA: diva2:769823