Novel ABCA-12 mutations leading to recessive congenital ichthyosis.
Mutations in the keratinocyte lipid transporter adenosine triphosphate-binding cassette A12 (ABCA12) are known to cause harlequin ichthyosis. More recently, mutations in this gene have been demonstrated to cause other phenotypes within the spectrum of recessive congenital ichthyosis. We report the case of an infant with novel heterozygous mutations in ABCA12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis.
Department of Dermatology, Oregon Health & Science University, Portland, Oregon.
Haley
H
Peterson
Sabra
S
Lofgren
Samuel
S
Bremmer
Alfons
A
Krol
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics* / Q000473:pathology*; D017490:Ichthyosis, Lamellar / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D017354:Point Mutation; D012867:Skin / Q000473:pathology*
C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters