Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

7-Dehydrocholesterol-Reductase

Das DHCR7-Gen kodiert ein transmembranöses Enzym der Cholesterin-Synthese. Mutationen führen zu autosomal rezessivem Smith-Lemli-Opitz-Syndrom, welches durch einen niederigen Serumcholesterinspiegel charakterisiert ist.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Smith-Lemli-Opitz-Syndrom
DHCR7

Referenzen:

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.

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

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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/Smith--Lemli--Opitz 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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