title: Novel SLC39A4 mutation in acrodermatitis enteropathica.
abstract: Acrodermatitis enteropathica (AE) is a rare autosomal-recessive disorder characterized by dermatitis, alopecia, diarrhea, and retardation of growth and development. AE maps to 8q24.3 and is associated with mutations in the intestinal zinc transporter ZIP4 encoded by the gene SLC39A4. We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone. Genetic testing for this founder mutation can be easily performed for this treatable disorder.
authors.affiliation: Departments of Pediatrics.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Coromilas
authors.affiliation: Dermatology, Columbia University, New York, New York.
authors.forename: Heather A
authors.initials: HA
authors.lastname: Brandling-Bennett
authors.affiliation: Departments of Pediatrics.|Dermatology, Columbia University, New York, New York.
authors.forename: Kimberly D
authors.initials: KD
authors.lastname: Morel
authors.affiliation: Departments of Pediatrics.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D000169:Acrodermatitis / Q000188:drug therapy / Q000235:genetics*; D000505:Alopecia / Q000188:drug therapy / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics*; D003967:Diarrhea / Q000188:drug therapy / Q000235:genetics; D019587:Dietary Supplements; D005183:Failure to Thrive / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D016896:Treatment Outcome; D015032:Zinc / Q000097:blood / Q000172:deficiency; D019287:Zinc Sulfate / Q000627:therapeutic use
chemical_list: D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D019287:Zinc Sulfate; D015032:Zinc
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