7-dehydrocholesterol reductase
The DHCR7 gene encodes an transmembrane enzyme involved in cholesterol syntghesis. Mutations cause autosomal recessive Smith-Lemli-Opitz syndrome which is characterized by low serum cholesterol.
Genetests:
Related Diseases:
References:
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Shefer S et al. (1995) Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
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Nowaczyk MJ et al. (2006) DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
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Matsumoto Y et al. (2005) R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
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4. |
Scalco FB et al. (2005) DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
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Ciara E et al. (2004) DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
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Mueller C et al. (2003) Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
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7. |
Wright BS et al. (2003) Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.
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Opitz JM et al. () Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.
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Prasad C et al. (2002) Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
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Löffler J et al. (2000) Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.
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11. |
Krakowiak PA et al. (2000) Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
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12. |
Kelley RI et al. (2000) The Smith-Lemli-Opitz syndrome.
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13. |
Witsch-Baumgartner M et al. (2000) Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
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14. |
De Brasi D et al. (1999) Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
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15. |
Waterham HR et al. (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
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16. |
Moebius FF et al. (1998) Molecular cloning and expression of the human delta7-sterol reductase.
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17. |
Koo G et al. (2010) Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
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18. |
Porter JA et al. (1996) Cholesterol modification of hedgehog signaling proteins in animal development.
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19. |
Wassif CA et al. (1998) Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
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20. |
Fitzky BU et al. (1998) Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
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21. |
Nowaczyk MJ et al. (1998) Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.
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Yu H et al. (2000) 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.
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Yu H et al. (2000) Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
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Witsch-Baumgartner M et al. (2001) Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
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Wassif CA et al. (2001) Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/SmithLemliOpitz syndrome.
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Nowaczyk MJ et al. (2001) DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
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Nowaczyk MJ et al. (2001) Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.
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28. |
Langius FA et al. (2003) Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
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Kovarova M et al. (2006) Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.
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Witsch-Baumgartner M et al. (2008) Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
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Kalb S et al. (2012) High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
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NCBI article
NCBI 1717
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OMIM.ORG article
Omim 602858
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Orphanet article
Orphanet ID 121066
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Wikipedia article
Wikipedia EN (7-Dehydrocholesterol_reductase)
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Update: Aug. 14, 2020