Faculty Collaboration Database

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. Am J Med Genet 2000 Feb 14;90(4):347-50

Date

03/10/2000

Pubmed ID

10710236

DOI

10.1002/(sici)1096-8628(20000214)90:4<347::aid-ajmg16>3.0.co;2-7

Scopus ID

2-s2.0-0033960672 (requires institutional sign-in at Scopus site)   50 Citations

Abstract

The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol delta7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G-->C transversion in the splice acceptor site of exon 9 (IVS8-1G-->C) was suspected to be a frequent mutation, having been detected in about 18% of SLOS patients so far. This mutation results in the elimination of a AlwN1 restriction endonuclease site. We report a simple PCR-RFLP assay to detect the IVS8-1G-->C mutation. Using this method, we identified the IVS8-1G-->C mutation in 21 of 33 SLOS propositi. This mutation was detected in one of 90 normal adult Caucasian Americans; but not among 121 Africans from Sierra Leone, 120 Caucasians from Finland, 95 Chinese or 103 Japanese adults. The results of this study provide further evidence that IVS8-1G-->C transversion is a very common mutation in SLOS patients from the US and that the carrier rate in US caucasians may be high. The simple PCR-RFLP assay developed makes identification of this mutation convenient for diagnosis and for carrier detection.

Author List

Yu H, Tint GS, Salen G, Patel SB

Author

Hongwei Yu MD Professor in the Anesthesiology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adult
Base Sequence
Cell Line
DNA
Female
Humans
Male
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Smith-Lemli-Opitz Syndrome