Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Smith-Lemli-Opitz syndrome
DHCR7

References:

1.

Porter JA et. al. (1996) Cholesterol modification of hedgehog signaling proteins in animal development.

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2.

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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3.

Moebius FF et. al. (1998) Molecular cloning and expression of the human delta7-sterol reductase.

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4.

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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5.

Fitzky BU et. al. (1998) Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

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6.

Waterham HR et. al. (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

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7.

Nowaczyk MJ et. al. (1998) Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

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8.

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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9.

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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10.

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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11.

Kelley RI et. al. (2000) The Smith-Lemli-Opitz syndrome.

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12.

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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13.

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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14.

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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15.

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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16.

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

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17.

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

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18.

Nowaczyk MJ et. al. (2001) Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

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19.

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

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20.

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

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21.

Wright BS et. al. (2003) Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.

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22.

Langius FA et. al. (2003) Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

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23.

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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24.

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

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25.

Scalco FB et. al. (2005) DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.

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26.

Matsumoto Y et. al. (2005) R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

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27.

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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28.

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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29.

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

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30.

Koo G et. al. (2010) Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

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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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Update: Sept. 26, 2018