title: Novel SLC39A4 mutations in acrodermatitis enteropathica.
abstract: Acrodermatitis enteropathica is an autosomal recessive disease characterized by skin involvement due to defective intestinal zinc absorption. Usually, the skin lesions include erythema, erosions, and small blisters in perioral, perianal regions, and hands and feet, which develop soon after weaning from the breast. The acrodermatitis enteropathica gene has been localized to chromosomal region 8q24.3 and subsequently the SLC39A4 gene has been disclosed as the acrodermatitis enteropathica gene. SLC39A4 mutations have been demonstrated in several acrodermatitis enteropathica families, and in this study we have examined two Japanese acrodermatitis enteropathica families for SLC39A4 mutations. The mutation detection strategy consisted of polymerase chain reaction amplification of all 12 exons and flanking intronic sequences, followed by direct nucleotide sequencing. It revealed three novel mutations, 1017ins53, which creates a premature termination codon, and two mis-sense mutations, R95C and Q303H.
authors.affiliation: Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan.
authors.forename: Aoi
authors.initials: A
authors.lastname: Nakano
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Kazuo
authors.initials: K
authors.lastname: Nomura
authors.forename: Yuka
authors.initials: Y
authors.lastname: Toyomaki
authors.forename: Katsumi
authors.initials: K
authors.lastname: Hanada
mesh_terms: D000042:Absorption; D000169:Acrodermatitis / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D005528:Foot; D005808:Genes, Recessive; D006225:Hand; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000378:metabolism*; D008286:Malabsorption Syndromes / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012867:Skin / Q000473:pathology; D015032:Zinc / Q000493:pharmacokinetics
chemical_list: D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D015032:Zinc