Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
J Korean Med Sci. 2010 Dec;25(12):1818-20. doi: 10.3346/jkms.2010.25.12.1818. Epub 2010 Nov 24.
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.
肠病性肢端皮炎（AE）是一种常染色体隐性遗传病，其临床三联征为肢端皮炎、腹泻和脱发。AE 已知是由染色体 8q24.3 带上的 SLC39A4 基因突变引起的，该基因编码人类的锌转运体。一名 8 个月大的韩国男童出现腹股沟和膝盖处的湿疹样改变，并被诊断为 AE。血液检查显示血浆锌水平显著降低，口服补锌后症状改善。为了从先天性锌缺乏症中明确诊断 AE，对 SLC39A4 进行了直接测序分析，结果显示他是一个已知错义突变（Arg95Cys）和 7 号内含子供体位点新型剪接突变（c.1287+2T>C）的复合杂合子。家系研究显示，他的父母是该突变的杂合携带者。据我们所知，这是韩国首例经基因确诊的 AE 报告。
