Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease

Cheryl Maslen, D. Babcock, D. R. Illingworth

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    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.

    Original languageEnglish (US)
    Pages (from-to)620-623
    Number of pages4
    JournalJournal of Inherited Metabolic Disease
    Volume18
    Issue number5
    DOIs
    Publication statusPublished - Sep 1995

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    Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. / Maslen, Cheryl; Babcock, D.; Illingworth, D. R.

    In: Journal of Inherited Metabolic Disease, Vol. 18, No. 5, 09.1995, p. 620-623.

    Research output: Contribution to journalArticle