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Open Access

ATR mutation

  • Jonathan B Weitzman
Genome Biology20034:spotlight-20030317-01

Published: 17 March 2003


Protein LevelMental RetardationUltraviolet RadiationSyndrome PatientClinical Disorder

Seckel syndrome is an autosomal recessive disorder involving dwarfism and mental retardation. In an Advance Online Publication in Nature Genetics O'Driscoll et al. report the discovery of a mutation in the DNA-repair kinase ATR, in Seckel syndrome patients (Nature Genetics, 17 March 2003, doi:10.1038/ng1129). The ATR(ataxia-telangiectasia and Rad3-related) gene mapped to chromosome 3q22.1-q24, which had been genetically linked to Seckel syndrome. Fibroblasts from patients had impaired ATR function and response to ultraviolet radiation. O'Driscoll et al.identified a synonymous mutation that affects ATR splicing, and that causes reduced ATR protein levels. This is the first report linking ATR signalling to a clinical disorder.


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© BioMed Central Ltd 2003