β Scribed by Mia Horowitz; Metsada Pasmanik-Chor; Zvi Borochowitz; Tzipora Falik-Zaccai; Keren Heldmann; Rivka Carmi; Ruth Parvari; Hannah Beit-Or; Boleslav Goldman; Lea Peleg; Ephrat Levy-Lahad; Paul Renbaum; Searl Legum; Ruth Shomrat; Hannah Yeger; Dalit Benbenisti; Ruth Navon; Vardit Dror; Mordechai Shohat; Nurit Magal; Nir Navot; Nurit Eyal
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Gaucher disease is the most prevalent inherited disease among Ashkenazi Jews. It is very heterogeneous due to a large number of mutations within the glucocerebrosidase gene, whose impaired activity is the cause for this disease. Aiming at determining Gaucher carrier frequency among the Ashkenazi Jewish population in Israel, 1,208 individuals were molecularly diagnosed for six mutations known to occur among Ashkenazi Jewish Gaucher patients, using the newly developed Prontoβ’ Gaucher kit. The following mutations were tested: N370S, 84GG, IVS2+1, D409H, L444P, and V394L. Molecular testing of these mutations also allows identification of the recTL allele. The results indicated that Gaucher carrier frequency is 1:17 within the tested population. The prevalence of N370S carriers is 1:17.5. This implies that ~1:1225 Ashkenazi Jews will be homozygous for the N370S mutation. Actually, in our study of 1,208 individuals one was found to be homozygous for the N370S mutation. The actual number of known Ashkenazi Jewish Gaucher patients with this genotype is much lower than that expected according to the frequency of the N370S mutation, suggesting a low penetrance of this mutation. Results of loading experiments in cells homozygous for the N370S mutation, as well as cells homozygous for the L444P and the D409H mutations, exemplified this phenomenon. Hum Mutat 12:240-244, 1998.
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## Abstract Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme Dβglucoseβ6βphosphatase (G6Pase). While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry
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