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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica
Nutrition, Volume 22, No. 10, Year 2006
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Description
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. © 2006 Elsevier Inc. All rights reserved.
Authors & Co-Authors
Meftah, Sheila P.
United States, Detroit
Wayne State University School of Medicine
Kuivaniemi, Helena
United States, Detroit
Wayne State University School of Medicine
Tromp, Gerard C.
United States, Detroit
Wayne State University School of Medicine
Kerkeni, Abdelhamid
Tunisia, Monastir
Faculté de Médecine de Monastir
Sfar, Mohammed Tahar
Tunisia
Hôpital de Mahdia
Ayadi, Abdelkerim
Tunisia
Hôpital de Mahdia
Prasad, Ananda Shiva
United States, Detroit
Wayne State University School of Medicine
Statistics
Citations: 22
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1016/j.nut.2006.05.008
ISSN:
08999007
Research Areas
Cancer
Genetics And Genomics