title: Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
abstract: Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13). We have identified compound heterozygous mutations in a family with two siblings affected with CESD. Molecular genetic analysis revealed two mutations one of which has previously been seen only in Wolman disease. Analysis of these mutations acting in concert provides new insight into the correlation of genotype with phenotype in these allelic disorders.
authors.affiliation: Department of Medicine, Oregon Health Sciences University, Portland 97201-3098, USA.
authors.forename: C L
authors.initials: CL
authors.lastname: Maslen
authors.forename: D
authors.initials: D
authors.lastname: Babcock
authors.forename: D R
authors.initials: DR
authors.lastname: Illingworth
mesh_terms: D001483:Base Sequence; D002648:Child; D015217:Cholesterol Ester Storage Disease / Q000235:genetics*; D004247:DNA / Q000032:analysis; D018076:DNA, Complementary / Q000737:chemistry; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D015223:Wolman Disease / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D004247:DNA