Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G → C is found in over sixty percent of US propositi

American Journal of Medical Genetics

Volumn 90, Issue 4, 2000, Pages 347-350

  Yu, Hongwei ^a   Tint, G Stephen ^b,c   Salen, Gerald ^b,c   Patel, Shailendra B ^a,d  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Cholesterol synthesis; RSH; Smith Lemli Opitz syndrome; Splice site mutation

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; EXON; GENE MUTATION; HUMAN; HUMAN CELL; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RESTRICTION SITE; SMITH LEMLI OPITZ SYNDROME;

ADULT; BASE SEQUENCE; CELL LINE; DNA; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0033960672     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000214)90:4<347::AID-AJMG16>3.0.CO;2-7     Document Type: Article

References (12)

1. Fitzky BU, Glossmann H, Utermann G, Moebius PF. 1999. Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism. Curr Opin Lipidol 10:123-131.
2. Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF. 1998. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95:8181-8186.
3. Kumari D, Usdin K. 1999. Sequencing errors in reactions using labeled terminators. Biotechniques 27:648-650.
4. Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H. 1998. Molecular cloning and expression of the human delta7-sterol reductase. Proc Natl Acad Sci USA 95:1899-1902.
5. Opitz JM. 1994. RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations. Am J Med Gen 50:344-346.
6. Opitz JM. 1999. RSH (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr 11:353-362.
7. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF. 1995. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96:1779-1785.
8. Smith DW, Lemli L, Opitz JM. 1964. A newly recognized syndrome of multiple congenital abnormalities. J Fed 64:210-217.
9. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. 1994. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. New Eng J Med 330:107-113.
10. Trulzsch B, Krohn K, Wonerow P, Paschke R. 1999. DGGE is more sensitive for the detection of somatic point mutations than direct sequencing. Biotechniques 27:266-268.
11. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD. 1998. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55-62.
12. Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. 1998. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydro-cholesterol reductase gene. Am J Hum Genet 63:329-338.