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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
MAL de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates
Human Genetics, Volume 112, No. 1, Year 2003
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Description
Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens of Siemens is an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma (PPK) and transgressive keratosis with an onset in early infancy. There is no associated involvement of other organs; however, a spectrum of clinical presentations with optional and variable features has been described. Mutations in the ARS (component B)-81/s gene (LY6LS) on chromosome 8q24-qter, which encodes SLURP-1, have recently been identified in patients with MDM. Here, we have analyzed four MDM families for mutations in SLURP-1. In a large Palestinian pedigree with multiple consanguinity, patients are homozygous for a new mutation that substitutes an arginine for a conserved glycine residue at position 86. A different mutation in Turkish patients results in the same amino acid exchange. Some remarkable similarities are seen in the clinical picture of patients from both families. Patients of an Emirati Bedouin family have a homozygous alteration of the translation initiation codon. In a German family with no known consanguinity, we have shown pseudodominant inheritance. Three affected children and their affected mother are homozygous for the missense mutation W15R. Our findings indicate that the MDM type of transgressive PPK is caused by SLURP-1 mutations in patients from various origins and demonstrate allelic heterogeneity for mutations in SLURP-1. © Springer-Verlag 2003.
Authors & Co-Authors
Eckl, Katja Martina
Germany, Berlin
Max Delbruck Center for Molecular Medicine
Germany, Berlin
Freie Universität Berlin
Stevens, Howard P.
United Kingdom, London
St Bartholomew's Hospital
United Kingdom, Barnet
Barnet Hospital
Lestringant, Gilles G.
United Arab Emirates, Al Ain
Tawam Hospital
Westenberger-Treumann, Margaretha
Germany, Minden
Johannes Wesling Klinikum Minden
Traupe, Heiko
Germany, Munster
University of Münster
Hinz, Britta
Germany, Berlin
Max Delbruck Center for Molecular Medicine
Frossard, Philippe M.
United Arab Emirates, Al Ain
Tawam Hospital
Stadler, Rudolf
Germany, Minden
Johannes Wesling Klinikum Minden
Leigh, Irene May M.O.P.
United Kingdom, London
St Bartholomew's Hospital
Nürnberg, Peter
Germany, Berlin
Max Delbruck Center for Molecular Medicine
Germany, Berlin
Humboldt-universität zu Berlin
Reis, André
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Hennies, Hans C.
Germany, Berlin
Max Delbruck Center for Molecular Medicine
Statistics
Citations: 74
Authors: 12
Affiliations: 9
Identifiers
Doi:
10.1007/s00439-002-0838-8
ISSN:
03406717
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health