Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence of type 2 GD (GD2) in four pregnancies in two Jewish families in Israel (in one case the mother was not Ashkenazi but was from a Sfaradi Jewish family) and also review seven additional cases of GD2 in Ashkenazi Jewish families reported in the literature. Phenotypically, GD2 in Ashkenazi Jews does not differ significantly from this form in other ethnic groups. Genotypic analysis of probands from the two Israeli families demonstrates that each carried two heterozygous glucocerebrosidase mutations. We could find no explanation why GD2 is so rare in the Jewish Ashkenazi population but we could hypothesize that homozygosity for certain Ashkenazi alleles might be lethal, leading to a lower than expected frequency of GD2 and noted that no cases of homozygous L444P has ever been described in Ashkenazi Jews.
Aviner
Shraga
S
Department of Pediatrics, Barzilai Medical Center, Ashkelon, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. aviners@barzi.health.gov.il
Garty
Ben-Zion
BZ
Rachmel
Avinoam
A
Baris
Hagit N
HN
Sidransky
Ellen
E
Shuffer
Avinoam
A
Attias
Joseph
J
Yaniv
Yisaac
Y
Cohen
Ian J
IJ
D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000097:blood / Q000235:genetics* / Q000627:therapeutic use; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007557:Israel; D007585:Jews / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics
D005962:Glucosylceramidase; C090568:imiglucerase