Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome
| Autor: | R. Pierini, Cristiano Rizzo, C. Patrono, Carlo Dionisi-Vici, B. Bembi, C. Purificato, Maria Cristina Digilio, F.M. Santorelli, Aldo Giannotti, C. Martini |
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| Rok vydání: | 2002 |
| Předmět: |
Male
Oxidoreductases Acting on CH-CH Group Donors congenital hereditary and neonatal diseases and abnormalities DNA Mutational Analysis Reductase Biology medicine.disease_cause Severity of Illness Index 7-Dehydrocholesterol chemistry.chemical_compound Dehydrocholesterols medicine Humans Allele Child Molecular Biology Gene Alleles Genetics Mutation Infant Single-strand conformation polymorphism Cell Biology medicine.disease Molecular biology Sterol Smith-Lemli-Opitz Syndrome Cholesterol Italy chemistry Smith–Lemli–Opitz syndrome Child Preschool Female Oxidoreductases |
| Zdroj: | Molecular and Cellular Probes. 16:315-318 |
| ISSN: | 0890-8508 |
| DOI: | 10.1006/mcpr.2002.0426 |
| Popis: | We analyzed seven unrelated children with the Smith–Lemli–Opitz syndrome (SLOS) for mutations in the Δ7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G→C was found in three alleles, confirming its relative rarity among Italian SLOS families. By using a scoring system, clinical severity did not seem to correlate with 7DHC levels and type of mutation. Expanding the spectrum of mutations in SLOS, our study does not support direct genotype-phenotype correlation. |
| Databáze: | OpenAIRE |
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