| A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. | |
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MedLine Citation:
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PMID: 19365639 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of 7-dehydrocholesterol reductase as a consequence of mutations of the DHCR7 gene. This paper describes a special patient with SLO syndrome. Laboratory examination showed low cholesterol (2.77 mmol/L) and increased 7-dehydrocholesterol level (102 mg/L). Molecular genetic analysis revealed a compound heterozygosity c.964-1G>C/p.G366V (c.G1370T) of the proband. The p.G366V is a novel mutation of the DHCR7 gene with guanine by thymine nucleotide exchange resulting in glycin by valin amino acid exchange in the dehydrocholesterol reductase enzyme. Simvastatin (0.2 mg/kg/day) and cholesterol replacement therapy (150-250 mg/kg/day) led to significant improvement in the patient's laboratory findings (7-dehydrocholesterol, cholesterol) as well as in his behavior and gross motor function. CONCLUSION: Our patient demonstrates that the c.964-1G>C/p.G366V (c.G1370T) genotype of combined heterozygosity is associated with a typical form of SLO syndrome along with moderately altered laboratory findings and a favorable biochemical response to cholesterol and simvastatin treatment. |
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Authors:
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Gabriella P Szab?; Anna V Ol?h; Libor Kozak; Erzs?bet Balogh; Andrea Nagy; Ivona Blahakova; Eva Ol?h |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-04-14 |
Journal Detail:
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Title: European journal of pediatrics Volume: 169 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2009-11-12 Completed Date: 2010-02-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 121-3 Citation Subset: IM |
Affiliation:
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Pediatrics Department, Medical and Health Science Center, Debrecen University, Nagyerdei krt. 98, 4012 Debrecen, Hungary. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Cholesterol / blood, deficiency Cholesterol, Dietary / administration & dosage* DNA / genetics* DNA Mutational Analysis Dose-Response Relationship, Drug Drug Therapy, Combination Follow-Up Studies Genetic Predisposition to Disease Genotype Humans Hydroxymethylglutaryl-CoA Reductase Inhibitors / administration & dosage* Male Mutation* Oxidoreductases Acting on CH-CH Group Donors / blood, genetics* Simvastatin / administration & dosage* Smith-Lemli-Opitz Syndrome / blood, drug therapy, genetics* |
| Chemical | |
Reg. No./Substance:
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0/Cholesterol, Dietary; 0/Hydroxymethylglutaryl-CoA Reductase Inhibitors; 57-88-5/Cholesterol; 79902-63-9/Simvastatin; 9007-49-2/DNA; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC 1.3.1.21/7-dehydrocholesterol reductase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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