Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

被引：0

作者：

Katja Eckl

Howard P. Stevens

Gilles G. Lestringant

Margaretha Westenberger-Treumann

Heiko Traupe

Britta Hinz

Philippe M. Frossard

Rudolf Stadler

Irene M. Leigh

Peter Nürnberg

André Reis

Hans Hennies

机构：

[1] Gene Mapping Centre and Department of Molecular Genetics,

[2] Max Delbrück Centre for Molecular Medicine,undefined

[3] Robert Rössle Strasse 10,undefined

[4] 13125 Berlin,undefined

[5] Germany,undefined

[6] Centre for Cutaneous Research,undefined

[7] St Bartholomew's and the Royal London School of Medicine,undefined

[8] London,undefined

[9] UK,undefined

[10] Tawam Hospital and Faculty of Medicine and Health Sciences,undefined

[11] Al Ain,undefined

[12] United Arab Emirates,undefined

[13] Department of Dermatology,undefined

[14] Klinikum Minden,undefined

[15] Minden,undefined

[16] Germany,undefined

[17] Department of Dermatology,undefined

[18] Westfalian Wilhelms University,undefined

[19] Münster,undefined

[20] Germany,undefined

[21] Institute of Human Genetics,undefined

[22] Friedrich Alexander University,undefined

[23] Erlangen,undefined

[24] Germany,undefined

[25] Faculty of Biology,undefined

[26] Chemistry,undefined

[27] and Pharmacy,undefined

[28] Free University,undefined

[29] Berlin,undefined

[30] Germany,undefined

[31] Department of Dermatology,undefined

[32] Barnet General Hospital,undefined

[33] Barnet,undefined

[34] UK,undefined

[35] Institute of Medical Genetics,undefined

[36] Charité,undefined

[37] Humboldt University,undefined

[38] Berlin,undefined

[39] Germany,undefined

来源：

Human Genetics | 2003年 / 112卷

关键词：

United Arab Emirate; Initiation Codon; Acid Exchange; Affected Child; Glycine Residue;

D O I：

暂无

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学科分类号：

摘要：

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.

引用

页码：50 / 56

页数：6