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Future Lipidology Volume 3, 2008 - Issue 5
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Reviews

DHCR7 mutations causing the Smith—Lemli—Opitz syndrome

Martina Witsch-BaumgartnerDepartment for Medical Genetics, Molecular & Clinical PharmacologyMedical University Innsbruck, AT, 6020InnsbruckAustria, Tel.:+43 512 900 370 545 Fax.: +43 512 900 373 510 E-mail: [email protected]Correspondence[email protected]
Pages 585-593 | Published online: 18 Jan 2017

Bibliography

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  • Demonstrates the genetic structure andchromosomal localization of the genecoding for the 7 sterol reductase.
  • Fitzky BU, Witsch-Baumgartner M,Erdel M et al.: Mutations in the 7-sterolreductase gene in patients with theSmith–Lemli–Opitz syndrome. Proc. NatlAcad. Sci. 95(14), 8181–8186 (1998).
  • First description of mutations in theDHCR7 gene in SLOS patients.
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  • Shows mutations in DHCR7 gene in SLOSpatients and demonstrates the effect of thesplice site mutation c.964–1G>C.
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  • Studies therapy effects with cholesterolsupplementation in 39 SLOS patientstreated with and without simvastatin.
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  • Demonstrates the effects of simvastatin in aliving SLOS mouse that carries a knownhuman missense mutation in one allele andthe deletion in the other instead ofhomozygous deletion in DHCR7 gene.
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  • Demonstrates that 7DHC restoresthe organization of the membrane butnot ligand binding in solubilizednative membranes.
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  • Estimates the frequency of commonDHCR7 mutations in African–Americans.
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  • Witsch-Baumgartner M, Clayton P,Clusellas N et al.: Identification of 14 novelmutations in DHCR7 causing theSmith–Lemli–Opitz syndrome anddelineation of the DHCR7 mutationalspectra in Spain and Italy. Hum. Mutat.25(4), 412 (2005).
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  • Demonstrates a possible origin ofcommon SLOS mutations in DHCR7gene and discusses causes for reachingsuch high carrier frequencies inEuropean populations.
  • Witsch-Baumgartner M, Ciara E, Löffler Jet al.: Frequency gradients of DHCR7mutations in patients withSmith–Lemli–Opitz syndrome in Europe:evidence for different origins of commonmutations. Eur. J. Hum. Genet. 9(1), 45–50(2001).
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  • Reviews mutations in DHCR7 genecausing SLOS and the constructionof haplotypes.
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  • Demonstrates an association betweengenotypes and the phenotypicaloutcome in a cohort of 84 well describedSLOS patients.
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  • Describes a SLOS patient with a lethalphenotype carrying two null mutations.
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  • Describes SLOS patients with verymild phenotype carrying mutationsin C-terminal region of the 7sterol reductase.
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  • Describes in detail the clinical phenotypeof 16 SLOS patients regarding anassociation with DHCR7 mutations.
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  • Witsch-Baumgartner M, Gruber M,Kraft HG et al.: Maternal apo E genotype isa modifier of the Smith–Lemli–Opitzsyndrome. J. Med. Genet. 41(8), 577–584(2004).
  • Demonstrates that a maternal geneticfactor may contribute to the phenotypicaloutcome of a child.
  • Irons MB, Nores J, Stewart TL et al.:Antenatal therapy of Smith–Lemli–Opitzsyndrome. Fetal Diagn. Ther. 14(3),133–137 (1999).

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