Ataxia-telangiectasia: founder effect among north African Jews

Human Molecular Genetics
S GiladY Shiloh

Abstract

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 defect 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.

Citations

Oct 26, 2010·Biotechnology Letters·Johanna A Smith, René Daniel
May 10, 2000·Current Opinion in Cell Biology·J H Petrini
Sep 24, 1999·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·W Jongmans, J Hall
Aug 6, 2002·Annals of Epidemiology·Susan HarlapXiaonan Xue
Apr 18, 2000·Mutation Research·S Angèle, J Hall
Jun 19, 2013·Molecular Therapy : the Journal of the American Society of Gene Therapy·Liutao DuRichard A Gatti
Aug 21, 2009·Annals of Human Genetics·Luciana ChessaBruno Dallapiccola
Aug 23, 2012·Orphanet Journal of Rare Diseases·Lilia RomdhaneSonia Abdelhak
Jan 24, 2002·Proceedings of the National Academy of Sciences of the United States of America·Shaun P ScottMartin F Lavin
Oct 4, 2011·Neurogenetics·Ilja DemuthRaymonda Varon
Jan 17, 2013·Neuromolecular Medicine·L JeddaneH Bellaoui
Sep 12, 2007·Archives of Medical Research·Behnaz BayatAbolhasan Farhoodi
May 1, 2007·The Lancet Oncology·Eric J Hall
May 1, 2007·The Lancet Oncology·Pazit Flint-Richter, Siegal Sadetzki
Jul 17, 2007·American Journal of Medical Genetics. Part a·Neora AltermanYosef Shiloh
Jan 5, 2011·American Journal of Medical Genetics. Part a·Lilia RomdhaneUNKNOWN Collaborators
Jun 30, 2000·Molecular Genetics and Metabolism·S G Becker-CataniaR A Gatti
Dec 29, 2005·Journal of the Neurological Sciences·Hong JiangHeping Dai
Apr 29, 1998·American Journal of Human Genetics·S GiladA Bar-Shira
Apr 18, 2000·Molecular Genetics and Metabolism·J ZlotogoraA Munnich
May 19, 2000·American Journal of Medical Genetics·A Li, M Swift
Sep 12, 2000·Human Mutation·K LaakeA L Børresen-Dale
Jun 2, 2007·Obstetrics and Gynecology·Ronit Calderon-MargalitOra Paltiel
Nov 21, 2001·Nature Reviews. Genetics·H Ostrer

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Cancer Disparities

Cancer disparities refers to differences in cancer outcomes (e.g., number of cancer cases, related health complications) across population groups.