J Korean Med Sci.  2010 Dec;25(12):1818-1820. 10.3346/jkms.2010.25.12.1818.

Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica

• Park CH
• Lee MJ
• Kim HJ
• Lee G
• Park JW
• Cinn YW

• KMID: 1792911
• DOI: http://doi.org/10.3346/jkms.2010.25.12.1818

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.

Keyword

Acrodermatitis; Acrodermatitis enteropathica; Congenital Zinc Deficiency; Novel Mutation; SLC39A4; Korea

MeSH Terms

Acrodermatitis/congenital/diagnosis/genetics
Alternative Splicing
Cation Transport Proteins/*genetics
Chromosomes, Human, Pair 8
Heterozygote
Humans
Infant
Male
Mutation, Missense
Sequence Analysis, DNA
Zinc/blood/*deficiency

Figure

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  Fig. 1 An 8-month-old boy with erythematous and desquamated skin lesions around knees, feet, and perioral and inguinal areas.

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  Fig. 2 Direct sequencing analyses of the SLC39A4 gene. The proband was compound heterozygous for a previously reported missense mutation c.283C>T (p.Arg95Cys) and a novel splicing mutation in the donor site of intron 7, c.1287+2T>C. The parents were heterozygous carriers of the mutations.

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