Novel SLC39A4 Mutation in Acrodermatitis Enteropathica

作者：Coromilas Alexandra; Brandling Bennett Heather A; Morel Kimberly D; Chung Wendy K^*

来源：Pediatric Dermatology, 2011, 28(6): 697-700.

DOI：10.1111/j.1525-1470.2011.01637.x

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.

• 出版日期2011-12