Journal
JOURNAL OF KOREAN MEDICAL SCIENCE
Volume 25, Issue 12, Pages 1818-1820Publisher
KOREAN ACAD MEDICAL SCIENCES
DOI: 10.3346/jkms.2010.25.12.1818
Keywords
Acrodermatitis; Acrodermatitis enteropathica; Congenital Zinc Deficiency; Novel Mutation; SLC39A4; Korea
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Funding
- Dankook University
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Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene on the chromosome band 8q24.3, encoding the zinc transporter in human. An 8-month-old Korean boy presented with eczematous changes on the inguinal area and knees and was diagnosed with AE. Blood tests revealed a markedly decreased level of plasma zinc, and his symptoms improved on oral zinc replacement. To confirm the diagnosis of AE from congenital zinc deficiency, direct sequencing analysis of SLC39A4 was performed and revealed that he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation in the donor site of intron 7 (c.1287+2T>C). Family study showed that his parents were heterozygous carriers of the mutations. To the best of our knowledge, this is the first report of genetically confirmed AE in Korea.
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