[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4].
BACKGROUND
Acrodermatitis enteropathica (AE) is an autosomal recessively inherited disease caused by a decreased intestinal zinc resorption and characterized by severe dermatitis (preferably hands, feet, mouth, genital region), chronic diarrhoea, retardation of growth and development, alopecia and increased proneness to infections. In 2002 it was shown that mutations in the zinc transporter gene SLC39A4 is the cause of AE.


METHODS
Here we report 4 patients with typical clinical signs since early childhood. Under regular substitution with zinc all patients are more or less free of symptoms. The first patient revealed compound-heterozygous missense/nonsense mutations (P200L/ W401X), the three other patients were homozygous for a mutation in intron 1 (c.192 + 19G > A) of the SLC39A4 gene.


CONCLUSIONS
The diagnosis of hereditary acrodermatitis enteropathica can now easily be confirmed by mutation analysis of the SLC39A4 gene.
Lehnert
T
T
Universitätsklinik für Kinder und Jugendliche, Oststrasse 21-25, 04317 Leipzig.
Küry
S
S
Bürk
G
G
Hoepffner
W
W
Schuster
V
V
D000169:Acrodermatitis / Q000188:drug therapy / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D002869:Chromosome Aberrations; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D016133:Polymerase Chain Reaction; D015032:Zinc / Q000008:administration & dosage / Q000172:deficiency*
D027682:Cation Transport Proteins; D018389:Codon, Nonsense; C486791:SLC39A4 protein, human; D015032:Zinc