Novel SLC39A4 Mutation in Acrodermatitis Enteropathica
Article first published online: 15 NOV 2011
© 2011 Wiley Periodicals, Inc.
Volume 28, Issue 6, pages 697–700, November/December 2011
How to Cite
Coromilas, A., Brandling-Bennett, H. A., Morel, K. D. and Chung, W. K. (2011), Novel SLC39A4 Mutation in Acrodermatitis Enteropathica. Pediatric Dermatology, 28: 697–700. doi: 10.1111/j.1525-1470.2011.01637.x
- Issue published online: 15 NOV 2011
- Article first published online: 15 NOV 2011
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.