Ataxia-telangiectasia: closer to unraveling the mystery

Eur J Hum Genet. 1995;3(2):116-38. doi: 10.1159/000472285.


Ataxia-telangiectasia (A-T) is a progressive genetic disorder affecting the central nervous and immune systems, and involving chromosomal instability, cancer predisposition, radiation sensitivity and cell cycle abnormalities. Studies of the cellular phenotype of A-T have pointed to a defect in a putative system that processes a specific type of DNA damage and initiates a signal transduction pathway controlling replication and repair. A-T is genetically heterogeneous, with 4 complementation groups. While functional cloning of the A-T gene(s) using gene transfer has proven problematic, positional cloning attempts are zeroing in on a defined interval on chromosome 11q22-23 that probably harbors the mutations for all 4 complementation groups.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Ataxia Telangiectasia / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • DNA Damage / drug effects
  • DNA Damage / radiation effects
  • DNA Repair / genetics
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • Signal Transduction