A new genetic isolate of acrodermatitis enteropathica with a novel mutation

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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“…The high rate of consanguineous marriages in some cohorts leads to a higher carrier state of the mutation (1:50) (7). …”

Section: Discussionmentioning

confidence: 99%

Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica

et al. 2010

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“…Se cree que la leche humana contiene ligandos que benefician la absorción del zinc, lo cual enmascara el cuadro durante la lactancia 6 .…”

Section: Acrodermatitis Enteropáticaunclassified

Acrodermatitis enteropática: caso clínico y revisión de la literatura

2013

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“…A total of 29 mutations have been reported so far: 15 missense, 3 nonsense, 3 splice site and 8 frameshift mutations. [2][3][4][5][6] Among seven other variants of uncertain pathogenicity also reported, 2 three ones, including two missense and a splice site variant, can be considered likely deleterious. No hotspot mutation region is observed, because alterations are evenly distributed all along the 12 exons.…”

Section: Mutational Spectrummentioning

confidence: 99%