A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement
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 exam...
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Published in | European journal of pediatrics Vol. 169; no. 1; pp. 121 - 123 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
Berlin/Heidelberg
Springer-Verlag
2010
Springer Nature B.V |
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Abstract | 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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AbstractList | 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. 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.[PUBLICATION ABSTRACT] 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 (2.77mmol/L) and increased 7-dehydrocholesterol level (102mg/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 (0.2mg/kg/day) and cholesterol replacement therapy (150-250mg/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. 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. 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. 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. |
Author | Balogh, Erzsébet Nagy, Andrea Oláh, Éva Oláh, Anna V. Blahakova, Ivona Szabó, Gabriella P. Kozak, Libor |
Author_xml | – sequence: 1 givenname: Gabriella P. surname: Szabó fullname: Szabó, Gabriella P. organization: Pediatrics Department, Medical and Health Science Center, Debrecen University – sequence: 2 givenname: Anna V. surname: Oláh fullname: Oláh, Anna V. organization: Department of Clinical Biochemistry & Molecular Pathology, Medical and Health Science Center, Debrecen University – sequence: 3 givenname: Libor surname: Kozak fullname: Kozak, Libor organization: Center of Molecular Biology and Gene Therapy, University Hospital Brno – sequence: 4 givenname: Erzsébet surname: Balogh fullname: Balogh, Erzsébet organization: Pediatrics Department, Medical and Health Science Center, Debrecen University – sequence: 5 givenname: Andrea surname: Nagy fullname: Nagy, Andrea organization: Pediatrics Department, Medical and Health Science Center, Debrecen University – sequence: 6 givenname: Ivona surname: Blahakova fullname: Blahakova, Ivona organization: Center of Molecular Biology and Gene Therapy, University Hospital Brno – sequence: 7 givenname: Éva surname: Oláh fullname: Oláh, Éva email: eolah@dote.hu organization: Pediatrics Department, Medical and Health Science Center, Debrecen University |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/19365639$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1136/jmg.37.5.321 10.1002/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W 10.1093/hmg/ddl003 10.1016/0009-8981(95)06038-4 10.1016/S0022-3476(64)80264-X 10.1016/S0022-2275(20)33442-8 |
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Keywords | Smith–Lemli–Opitz syndrome Cholesterol substitution p.G366V Simvastatin Novel mutation |
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References | Correra-Cerro, Wassif, Kratz (CR1) 2006; 15 Kelley, Hennekam (CR5) 2000; 37 Jira, Wevers, De Jong (CR3) 2000; 41 Smith, Lemli, Opitz (CR6) 1964; 64 Irons, Elias, Abuleo (CR2) 1997; 68 Kelley (CR4) 1995; 236 14119520 - J Pediatr. 1964 Feb;64:210-7 16446309 - Hum Mol Genet. 2006 Mar 15;15(6):839-51 7664465 - Clin Chim Acta. 1995 Apr 30;236(1):45-58 9024565 - Am J Med Genet. 1997 Jan 31;68(3):311-4 10946022 - J Lipid Res. 2000 Aug;41(8):1339-46 10807690 - J Med Genet. 2000 May;37(5):321-35 DW Smith (987_CR6) 1964; 64 RI Kelley (987_CR5) 2000; 37 LS Correra-Cerro (987_CR1) 2006; 15 RI Kelley (987_CR4) 1995; 236 M Irons (987_CR2) 1997; 68 PE Jira (987_CR3) 2000; 41 |
References_xml | – volume: 37 start-page: 321 year: 2000 end-page: 335 ident: CR5 article-title: The Smith–Lemli–Opitz syndrome publication-title: J Med Genet doi: 10.1136/jmg.37.5.321 contributor: fullname: Hennekam – volume: 41 start-page: 1339 year: 2000 end-page: 1346 ident: CR3 article-title: Simvastatin. A new therapeutic approach for Smith–Lemli–Opitz syndrome publication-title: J Lipid Res contributor: fullname: De Jong – volume: 68 start-page: 311 year: 1997 end-page: 314 ident: CR2 article-title: Treatment of Smith–Lemli–Opitz syndrome: results of a multicenter trial publication-title: Am J Med Genet doi: 10.1002/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W contributor: fullname: Abuleo – volume: 15 start-page: 839 issue: 6 year: 2006 end-page: 851 ident: CR1 article-title: Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy publication-title: Hum Mol Genet doi: 10.1093/hmg/ddl003 contributor: fullname: Kratz – volume: 236 start-page: 45 year: 1995 end-page: 58 ident: CR4 article-title: Diagnosis of Smith–Lemli–Opitz syndrome by gas chromatography/mass spectrophotometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts publication-title: Clin Chim Acta doi: 10.1016/0009-8981(95)06038-4 contributor: fullname: Kelley – volume: 64 start-page: 210 year: 1964 end-page: 217 ident: CR6 article-title: A newly recognized syndrome of multiple congenital anomalies publication-title: J Pediatr doi: 10.1016/S0022-3476(64)80264-X contributor: fullname: Opitz – volume: 15 start-page: 839 issue: 6 year: 2006 ident: 987_CR1 publication-title: Hum Mol Genet doi: 10.1093/hmg/ddl003 contributor: fullname: LS Correra-Cerro – volume: 37 start-page: 321 year: 2000 ident: 987_CR5 publication-title: J Med Genet doi: 10.1136/jmg.37.5.321 contributor: fullname: RI Kelley – volume: 236 start-page: 45 year: 1995 ident: 987_CR4 publication-title: Clin Chim Acta doi: 10.1016/0009-8981(95)06038-4 contributor: fullname: RI Kelley – volume: 64 start-page: 210 year: 1964 ident: 987_CR6 publication-title: J Pediatr doi: 10.1016/S0022-3476(64)80264-X contributor: fullname: DW Smith – volume: 68 start-page: 311 year: 1997 ident: 987_CR2 publication-title: Am J Med Genet doi: 10.1002/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W contributor: fullname: M Irons – volume: 41 start-page: 1339 year: 2000 ident: 987_CR3 publication-title: J Lipid Res doi: 10.1016/S0022-2275(20)33442-8 contributor: fullname: PE Jira |
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Snippet | Background
The Smith–Lemli–Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of... 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... Background: The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of... |
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SubjectTerms | Child Cholesterol - blood Cholesterol - 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 Medicine Medicine & Public Health Mutation Oxidoreductases Acting on CH-CH Group Donors - blood Oxidoreductases Acting on CH-CH Group Donors - genetics Pediatrics Short Report Simvastatin - administration & dosage Smith-Lemli-Opitz Syndrome - blood Smith-Lemli-Opitz Syndrome - drug therapy Smith-Lemli-Opitz Syndrome - genetics |
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Title | 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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