Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.

[Bullosis diabeticorum: report of ten cases]. / La bullose des diabétiques: a propos de dix cas.

BACKGROUND: Bullosis diabeticorum is a rare characteristic complication of diabetes mellitus; it affects 0.5% of diabetics. Bullosis diabeticorum is a manifestation of complicate and longstanding diabetes mellitus. THE AIM: of our study was to describe particularities of diabetes in patients suffering of this disease. METHODS: We have led a retrospective study covering a 5 year-period (January 2001 - December 2007) in the dermatology department of the Charles Nicolle's hospital in Tunisia. We selected for this study all cases of bullosis diabeticorum. RESULTS: During the studied period, 10 cases have been collected. They were in all cases about complicate and long-standing diabetes. Bullosis diabeticorum has a favourable outcome in all cases with symptomatic treatment. CONCLUSION: The different cases of bullosis diabeticorum reported in our series were associated to complicate diabetes mellitus what lets suggest that vascular deteriorations led to cutaneous fragility responsible for the skin cleavage.

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.

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.