Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
J Med Genet
; 35(9): 775-7, 1998 Sep.
Article
in En
| MEDLINE
| ID: mdl-9733040
Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D409H mutation has been associated with a particular phenotype, including specific cardiovascular symptoms. Here we report a second Spanish patient bearing the D409H/D409H genotype with a very early manifestation of the disease. The patient started enzyme replacement therapy at 3 months of age. A common origin for the Spanish D409H alleles was ruled out by haplotype analysis using an internal polymorphism of the glucocerebrosidase gene and two external microsatellite markers.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Haplotypes
/
Point Mutation
/
Gaucher Disease
/
Homozygote
Limits:
Humans
/
Newborn
Country/Region as subject:
Europa
Language:
En
Journal:
J Med Genet
Year:
1998
Document type:
Article
Affiliation country:
Country of publication: