RESUMEN

Acrodermatitis enteropathica, a rare autosomal recessive disease, manifests as periorificial and symmetrical acral dermatitis, alopecia, and diarrhea due to insufficient zinc uptake by the intestine. Recent research revealed that mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. This gene encodes one member of a human zinc transporter-like protein, also known as ZIP4. We detected one novel homozygous mutation c.1115T > G in the human SLC39A4 gene in one Chinese patient, which leading to p.L372R of the ZIP4. Homology analysis shows Leu372 in ZIP4 is conserved in Eutheria.

Asunto(s)

Acrodermatitis/genética , Proteínas de Transporte de Catión/genética , Acrodermatitis/diagnóstico , Acrodermatitis/tratamiento farmacológico , Acrodermatitis/fisiopatología , Adolescente , Alopecia , Proteínas de Transporte de Catión/metabolismo , China , Análisis Mutacional de ADN , Diarrea , Eritema , Femenino , Homocigoto , Humanos , Mutación/genética , Linaje , Zinc/deficiencia , Sulfato de Zinc/uso terapéutico