A simple PCR-based assay allows detection of a common mutation, IVS8-1G → C, in DHCR7 in Smith-Lemli-Opitz syndrome

Kevin P. Battaile, Cheryl L. Maslen, Christopher A. Wassif, Patrycja Krakowiak, Forbes D. Porter, Robert D. Steiner

    Research output: Contribution to journalArticle

    14 Scopus citations

    Abstract

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple malformation disorder. A deficiency of the enzyme 7-dehydrocholesterol Δ7- reductase (DHCR7) is the primary abnormality in SLOS. The gene encoding DHCR7 has been cloned, and we have identified a mutation affecting the splice acceptor site 5' of exon 9 that occurs frequently in affected individuals. We developed a novel PCR-based assay to detect this common mutation in DHCR7. Using this assay, heterozygosity was detected for this mutation in 18 of 26 and homozygosity in 1 of 26 unrelated affected individuals. The high frequency of this mutation is suggestive of either a founder effect in our group of patients or a mutational hotspot. The simplicity and reliability of this assay will allow it to be used as a clinical test to aid in diagnosis of atypical cases, in carrier testing, in prediction of prognosis based on genotype, and in prenatal molecular genetic diagnostic testing.

    Original languageEnglish (US)
    Pages (from-to)361-363
    Number of pages3
    JournalGenetic Testing
    Volume3
    Issue number4
    DOIs
    StatePublished - Jan 1 1999

    ASJC Scopus subject areas

    • Genetics(clinical)

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