A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages

A. M. Ferraris, C. Melani, L. Canepa, T. Meloni, G. Forteleoni, G. F. Gaetani

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Ataxia telangiectasia is a genetically determined disease with multisystem abnormalities and a high incidence of neoplasia. In order to define the nature of the association between ataxia telangiectasia and malignancy, we investigated a patient with the disease and heterozygote for the Mediterranean variant of the x-linked marker glucose 6-phosphate dehydrogenase. Enzymatic mosaicism in hemopoietic and nonhemopoietic cells was evaluated with the 2-deoxy glucose 6-phosphate technique. While erythrocytes, platelets, and lymphocytes expressed the same double-enzyme phenotype as tissues of nonhemopoietic origin, granulocytes and monocytes expressed almost exclusively the Mediterranean-type enzyme. We suggest that, as the result of genetic instability at the hemopoietic stem-cell level, the granulocytic/monocytic progeny enjoyed a proliferative advantage and became the predominant clone.

Original languageEnglish
Pages (from-to)32-38
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number1
Publication statusPublished - 1987


ASJC Scopus subject areas

  • Genetics

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