Homozygosity for the double D409H+H255Q allele in type II Gaucher disease
| Autor: | Gessami Sanchez, Raül Santamaria, Daniel Grinberg, Amparo Chabás, Laura Gort, Evagelia Dimitriou, Lluïsa Vilageliu, Helen Michelakakis, Spyros Fotopoulos, Maria Dassopoulou, Marina Moraitou |
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| Rok vydání: | 2006 |
| Předmět: |
Genotype
Biology medicine.disease_cause Polymerase Chain Reaction Loss of heterozygosity Genetics medicine Humans Allele Oculomotor apraxia Gene Alleles Genetics (clinical) Mutation Gaucher Disease Greece beta-Glucosidase Homozygote DNA Restriction Enzymes medicine.disease Phenotype Albania Visceromegaly |
| Zdroj: | Journal of Inherited Metabolic Disease. 29:591-591 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/s10545-006-0316-x |
| Popis: | Homozygosity for D409H has been associated with a unique type III subtype of the disease with a phenotype dominated by severe cardiovascular involvement, whereas neurological findings, if present, are restricted to oculomotor apraxia and features such as visceromegaly are either minimal or absent. Using PCR amplification followed by restriction enzyme analysis, 3 patients (1 Greek, 2 Albanians) were IDentified with the D409H/D409H genotype. All shared a very severe early-onset neurological phenotype that classified them as type II. Amplification and sequencing of the full coding region of the GBA gene revealed that all three patients were homozygous not only for D409H but also for H255Q. Both mutations were present on the same allele, as shown by analysis of the parental DNA. The double D409H+H255Q allele was found in heterozygosity in Greek, Bulgarian and Argentinian patients but was not IDentified in any Spanish patients carrying the D409H mutation. |
| Databáze: | OpenAIRE |
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