title: Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
abstract: Gaucher disease (GD) is the most frequent lysosomal glycolipid storage disorder due to autosomal recessive deficiency of acid beta-glucosidase and is characterized by the accumulation of glucocerebroside. In this work we carried out molecular analysis of the glucocerebrosidase gene (GBA) in 57 unrelated patients and the alleleic frequencies of gene mutations in Turkish patients are reported. The most prevalent are L444P and N370S accounting for 42% and 30% in our patients. We identified three novel genetic alterations: two missense changes S356F, L296V that are associated with the severe phenotype of type 1 GD. 303-305delCAC was identified in a homozygous state in one patient type 1 or type 3.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, University of Hacettepe, Ankara 06100 Sihhiye, Turkey. semre@hacettepe.edu.tr
authors.forename: Serap
authors.initials: S
authors.lastname: Emre
authors.forename: Figen
authors.initials: F
authors.lastname: Gürakan
authors.forename: Aysel
authors.initials: A
authors.lastname: Yüce
authors.forename: Arnold
authors.initials: A
authors.lastname: Rolf
authors.forename: Ronald
authors.initials: R
authors.lastname: Scott
authors.forename: Hasan
authors.initials: H
authors.lastname: Ozen
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D015995:Prevalence; D014421:Turkey / Q000453:epidemiology
chemical_list: D005962:Glucosylceramidase