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Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica
Author(s) -
Küry Sébastien,
Kharfi Monia,
Kamoun Ridha,
Taïeb Alain,
Mallet Eric,
Baudon JeanJacques,
Glastre Catherine,
Michel Bruno,
Sebag Francis,
Brooks David,
Schuster Volker,
Scoul Catherine,
Dréno Brigitte,
Bézieau Stéphane,
Moisan JeanPaul
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9178
Subject(s) - acrodermatitis enteropathica , missense mutation , nonsense mutation , compound heterozygosity , genetics , biology , zinc deficiency (plant disorder) , mutation , nonsense , gene , ecology , nutrient
Acrodermatitis enteropathica is rare autosomal recessive disorder characterized by a severe nutritional zinc deficiency. We and others have recently identified the human gene encoding an intestinal zinc transporter of the ZIP family, SLC39A4 , as the mutated gene in acrodermatitis enteropathica (AE). A first mutation screening in 8 AE families (15 patients out of 36 individuals) revealed the presence of six different mutations described elsewhere. Based on these results, we have evaluated the involvement of SLC39A4 in 14 patients of 12 additional AE pedigees coming either from France, Tunisia, Austria or Lithuania. A total of 7 SLC39A4 mutations were identified (1 deletion, 2 nonsense, 2 missense, and 2 modifications of splice site), of which 4 are novel: a homozygous nonsense mutation in 3 consanguineous Tunisian families [c.143T>G (p.Leu48X)], a heterozygous nonsense mutation (c.1203G>A (p.Trp401X)) in a compound heterozygote from Austria also exhibiting an already known missense mutation, and distinct homozygous mutations in families from France or Tunisia [c.475‐2A>G and c.184T>C (p.Cys62Arg)]. Furthermore, two other potential mutations [c.850G>A (p.Glu284Lys) and c.193‐113T>C] were also observed at homozygous state in a French family formerly described. This study brings to 21 the number of reported SLC39A4 mutations in AE families. © 2003 Wiley‐Liss, Inc.