Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.
We have identified six individuals over three generations within a Lebanese-Arab family affected with Gaucher disease. This family is unusual and informative because affected members are homozygous for a previously unidentified mutation, L371V. Clinical symptoms begin in early childhood and progress to moderately severe involvement by young adulthood. There is significant anemia, thrombocytopenia, and bony involvement, but no mental deterioration. The phenotype is more severe than the phenotype observed in the common mutation associated with type 1 Gaucher disease, N370S. It is unknown whether L371V is a private mutation limited to this family, or will prove to be a common mutation within the Lebanese population.
Shamseddine
A
A
Department of Internal Medicine, Hematology-Oncology Division, American University of Beirut, Lebanon.
Taher
A
A
Fakhani
S
S
Zhang
M
M
Scott
C Ronald
CR
Habbal
M Z
MZ
D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007861:Lebanon; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013921:Thrombocytopenia / Q000473:pathology
D005962:Glucosylceramidase