title: Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
abstract: 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.
authors.affiliation: Institut de Bioquímica Clínica, Planta Baixa, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Chabás
authors.forename: L
authors.initials: L
authors.lastname: Gort
authors.forename: M
authors.initials: M
authors.lastname: Montfort
authors.forename: F
authors.initials: F
authors.lastname: Castelló
authors.forename: M C
authors.initials: MC
authors.lastname: Domínguez
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
mesh_terms: D005776:Gaucher Disease / Q000188:drug therapy / Q000235:genetics*; D005819:Genetic Markers; D005962:Glucosylceramidase / Q000235:genetics / Q000627:therapeutic use; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013030:Spain
chemical_list: D005819:Genetic Markers; C070292:alglucerase; D005962:Glucosylceramidase