Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.
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.
El-Zahabi
Lara M
LM
Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Makarem
Jawad
J
Habbal
Zuheir
Z
Otrock
Zaher K
ZK
Taher
Ali
A
Shamseddine
Ali
A
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*
D001617:beta-Glucosidase