Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare

Shraga Aviner, Ben Zion Garty, Avinoam Rachmel, Hagit N. Baris, Ellen Sidransky, Avinoam Shuffer, Joseph Attias, Yisaac Yaniv, Ian J. Cohen

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)294-297
Number of pages4
JournalBlood Cells, Molecules, and Diseases
Issue number3
StatePublished - Nov 2009
Externally publishedYes

Bibliographical note

Funding Information:
Ellen Sidransky's contribution to this work was funded by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.


  • Ashkenazi Jews
  • Glucocerebrosidase
  • Lysosomal storage disorder
  • Type 2 Gaucher disease

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology


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