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Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda
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- Zhao, Linshu (author)
- Uppsala universitet,Medicinsk genetik
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- Vahlquist, Anders (author)
- Uppsala universitet,Dermatologi och venereologi
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- Virtanen, Marie (author)
- Uppsala universitet,Dermatologi och venereologi
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- Wennerstrand, Lena (author)
- Lind, Lisbet K. (author)
- Pigg, Maritta Hellström (author)
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- (creator_code:org_t)
- Medical Journals Limited, 2014
- 2014
- English.
- In: Acta Dermato-Venereologica. - : Medical Journals Limited. - 0001-5555 .- 1651-2057. ; 94:6, s. 707-710
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Infektionsmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Infectious Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Dermatologi och venereologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Dermatology and Venereal Diseases (hsv//eng)
Keyword
- SLURP1
- mal de Meleda
- palmoplantar keratoderma
- Gamborg-Nielsen
- missense mutation
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- ref (subject category)
- art (subject category)
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