A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica.
Acrodermatitis enteropathica is a rare autosomal recessive disease that manifests as an inability of the affected individual to absorb intestinal zinc, and therefore patients have nutritional zinc deficiency. Without zinc therapy, this condition is fatal. Mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. This gene encodes one member of a human zinc/iron-regulated transporter-like protein, also known as ZIP4, and consists of 12 exons and spans about 4.7 kb. We describe a novel mutation in a Tunisian family in which a chain termination codon in exon 3 yielded a truncated ZIP4 zinc transporter protein.
Meftah
Sheila P
SP
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA.
Kuivaniemi
Helena
H
Tromp
Gerard
G
Kerkeni
Abdelhamid
A
Sfar
Mohammed Tahar
MT
Ayadi
Abdelkerim
A
Prasad
Ananda S
AS
D000169:Acrodermatitis / Q000188:drug therapy / Q000235:genetics*; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D015032:Zinc / Q000172:deficiency* / Q000493:pharmacokinetics / Q000627:therapeutic use*
D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D015032:Zinc