Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics

Volumn 102, Issue 4, 2001, Pages 383-386

  Nowaczyk, Magorzata J M ^a   Nakamura, Lisa M ^a   Eng, Barry ^a   Porter, Forbes D ^b   Waye, John S ^c  

^a MCMASTER UNIVERSITY   (Canada)

^b Medicine Program   (Canada)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Carrier frequency; DHCR7 mutations; Population genetics; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DNA; OXIDOREDUCTASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL METABOLISM; ENZYME DEFICIENCY; ETHNIC GROUP; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EUROPE; GENE FREQUENCY; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0035451261     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1441     Document Type: Article

References (16)

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2. Holoprosencephaly in a fetus with Smith-Lemli-Opitz syndrome (SLOS)
3. Mutation in the δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
4. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
5. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
6. The Smith-Lemli-Opitz syndrome
7. 7-sterol reductase
8. Analysis of any point mutation in DNA: The amplification refractory mutation system (ARMS)
9. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada
10. RSH (so-called Smith-Lemli-Opitz) syndrome
11. Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype
12. 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
13. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
14. 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
15. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations
16. Detection of a common mutation in the SLOS by a PCR-RFLP assay: IVS8-1G→C is found in over sixty percent of US population