title: Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang-Hun
authors.initials: CH
authors.lastname: Park
authors.forename: Mee Jeong
authors.initials: MJ
authors.lastname: Lee
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Gunsong
authors.initials: G
authors.lastname: Lee
authors.forename: Joo-won
authors.initials: JW
authors.lastname: Park
authors.forename: Yong-woo
authors.initials: YW
authors.lastname: Cinn
mesh_terms: D000169:Acrodermatitis / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D017398:Alternative Splicing; D027682:Cation Transport Proteins / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA; D015032:Zinc / Q000097:blood / Q000172:deficiency*
chemical_list: D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D015032:Zinc