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Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Smith-Lemli-Opitz syndrome
DHCR7

References:

1.

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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2.

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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3.

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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5.

Ciara E et al. (2004) DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

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6.

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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8.

Opitz JM et al. () Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.

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9.

Prasad C et al. (2002) Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

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10.

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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22.

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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23.

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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24.

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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25.

Wassif CA et al. (2001) Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/SmithLemliOpitz syndrome.

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26.

Nowaczyk MJ et al. (2001) DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

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27.

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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29.

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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30.

Witsch-Baumgartner M et al. (2008) Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

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31.

Kalb S et al. (2012) High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

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32.

NCBI article

NCBI 1717 external link
33.

OMIM.ORG article

Omim 602858 external link
34.

Orphanet article

Orphanet ID 121066 external link
35.

Wikipedia article

Wikipedia EN (7-Dehydrocholesterol_reductase) external link
Update: Aug. 14, 2020
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