Article
An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H.
The Israel Medical Association journal : IMAJ - 1 Nov 2014
Bronstein Silvia, Karpati Mazal, Peleg Leah
Abstract excerpt
BACKGROUND: Gaucher disease is the most prevalent inherited disorder among Ashkenazi Jews (carrier frequency of about 6%) and six mutations account for about 96% of their mutant alleles. Two mutations, N370S and R496H, have been reported only in mildly affected or asymptomatic patients. Due to the rarity of R496H, it was recommended that it be excluded from screening programs. OBJECTIVES: To verify the frequency...
Topics
- Female
- Gaucher Disease
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Glucosylceramidase
- Humans
- Israel
- Jews
- Male
- Mutation