AI Article Synopsis
- Homozygosity for the D409H mutation is linked to a severe type III disease characterized mainly by cardiovascular issues, with minimal neurological symptoms.
- Three patients (1 Greek, 2 Albanians) were identified to have both the D409H/D409H genotype and a severe early-onset neurological phenotype, classified as type II.
- The full coding region of the GBA gene showed these patients were homozygous for both D409H and H255Q mutations, with the double allele being present in other populations but absent in Spanish patients with D409H.
Article Abstract
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.
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| http://dx.doi.org/10.1007/s10545-006-0316-x | DOI Listing |
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Article Synopsis
- Homozygosity for the D409H mutation is linked to a severe type III disease characterized mainly by cardiovascular issues, with minimal neurological symptoms.
- Three patients (1 Greek, 2 Albanians) were identified to have both the D409H/D409H genotype and a severe early-onset neurological phenotype, classified as type II.
- The full coding region of the GBA gene showed these patients were homozygous for both D409H and H255Q mutations, with the double allele being present in other populations but absent in Spanish patients with D409H.
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