title: Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.
abstract: Gaucher disease (GD) is the most frequently encountered lysosomal storage disease, caused by autosomal recessive inborn defects in the glucocerebrosidase gene (GBA) at 1q21. The disease is most common in the Ashkenazi Jewish population. GD can present with a vast phenotypic heterogeneity, which can be predicted to some extent from the underlying mutation. In this report, we describe a Lebanese Arab family with multigenerational incidence of GD caused by a heterozygous genotype of a rare mutation, R48W, and a common one, L444P. Our patients' clinical course is described. We also review the English literature for patients with this rare mutation.
authors.affiliation: Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Lara M
authors.initials: LM
authors.lastname: El-Zahabi
authors.forename: Jawad
authors.initials: J
authors.lastname: Makarem
authors.forename: Zuheir
authors.initials: Z
authors.lastname: Habbal
authors.forename: Zaher K
authors.initials: ZK
authors.lastname: Otrock
authors.forename: Ali
authors.initials: A
authors.lastname: Taher
authors.forename: Ali
authors.initials: A
authors.lastname: Shamseddine
mesh_terms: D019943:Amino Acid Substitution; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D006801:Humans; D007861:Lebanon; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D001617:beta-Glucosidase / Q000235:genetics*
chemical_list: D001617:beta-Glucosidase