Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping

American Journal of Medical Genetics

Volumn 94, Issue 3, 2000, Pages 214-227

  Krakowiak, Patrycja A ^a   Nwokoro, Ngozi A ^a   Wassif, Christopher A ^a   Battaile, Kevin P ^b   Nowaczyk, Magorzata J M ^c   Connor, William E ^d   Maslen, Cheryl ^d   Steiner, Robert D ^b   Porter, Forbes D ^a  

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

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c MCMASTER UNIVERSITY   (Canada)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

DHCR7; Mutation analysis; RSH syndrome; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; STEROID REDUCTASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CORRELATION FUNCTION; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ALLELES; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENOTYPE; HUMANS; INFANT; KARYOTYPING; LIMB DEFORMITIES, CONGENITAL; MALE; MODELS, GENETIC; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; POINT MUTATION; POLYDACTYLY; POLYMERASE CHAIN REACTION; SMITH-LEMLI-OPITZ SYNDROME; SYNDACTYLY;

EID: 0034684043     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R     Document Type: Article

References (44)

1. Basic local alignment search tool
2. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
3. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism
4. Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome
5. Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome
6. A simple PCR-based assay allows detection of a common mutation, IVS8-1G→C, in DHCR7 in Smith-Lemli-Opitz syndrome
7. Female external genitalia and mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome
8. A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings
9. Three sisters with the Smith-Lemli-Opitz syndrome
10. Incidence of Smith-Lemli-Opitz syndrome in Slovakia
11. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol
12. Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
13. Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): Clinical features and mode of inheritance
14. The syndrome of retardation with urogenital and skeletal anomalies in siblings
15. Molecular characterization of Italian patients affected by Smith-Lemli-Opitz syndrome
16. Unexpected molecular findings in two previously described brothers with Smith-Lemli-Opitz syndrome
17. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome
18. Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome
19. 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
20. Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia
21. Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial
22. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
23. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
24. RSH/Smith-Lemli-Opitz syndrome: Mutations and metabolic morphogenesis
25. Characterization of DHCR7 mutant alleles in nine Smith-Lemli-Opitz families
26. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome
27. Simplified mammalian DNA isolation procedure
28. Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome
29. Molecular cloning and expression of the human delta7-sterol reductase
30. Biochemical variants of Smith-Lemli-Opitz syndrome
31. Smith-Lemli-Opitz syndrome in an inbred family
32. Smith-Lemli-Opitz syndrome: Phenotypic extreme with minimal clinical findings
33. Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome
34. RSH (so-called Smith-Lemli-Opitz) syndrome
35. The RSH syndrome: Paradigmatic metabolic malformation syndrome?
36. Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference
37. Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome
38. Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype
39. A newly recognized syndrome of multiple congenital anomalies
40. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
41. 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
42. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
43. 7-reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome