Ataxia-telangiectasia: Founder effect among North African Jews

Shlomit Quad, Anat Bar-Shira, Reli Harnik, Dganit Shkedy, Yael Ziv, Rami Khosravi, Kevin Brown, Lina Vanagaite, Gang Xu, Moshe Frydman, Martin F. Lavin, David Hill, Danilo A. Tagle, Yosef Shiloh*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, were identified in various ethnic groups, precluding carrier screening with mutation-specific assays, However, a single mutation was observed in 32/33 defective ATM alleles in Jewish A-T families of North African origin, coming from various regions of Morocco and Tunisia. This mutation, 103C→T, results in a stop codon at position 35 of the ATM protein. In keeping with the nature of this mutation, various antibodies directed against the ATM protein failed to detect this protein in patient cells. A rapid carrier detection assay detected this mutation in three out of 488 ATM alleles of Jewish Moroccan or Tunisian origin. This founder effect provides a unique opportunity for population-based screening for A-T carriers in a large Jewish community.

Original languageEnglish
Pages (from-to)2033-2037
Number of pages5
JournalHuman Molecular Genetics
Issue number12
StatePublished - Dec 1996


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