Journal
JOURNAL OF PEDIATRICS
Volume 140, Issue 6, Pages 724-731Publisher
MOSBY-ELSEVIER
DOI: 10.1067/mpd.2002.123879
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Funding
- NCI NIH HHS [CA76513] Funding Source: Medline
- NINDS NIH HHS [NS35322] Funding Source: Medline
- Telethon [E.0764] Funding Source: Medline
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Objectives: To utilize radiosensitivity testing to improve early diagnosis of patients with ataxia-telangiectasia (A-T). Study design: We established normal ranges for the colony survival assay (CSA) by testing cells from 104 patients with typical A-T, 29 phenotypic normal patients, and 19 A-T heterozygotes, We also analyzed 61 samples from patients suspected of having A-T and 25 patients with related disorders to compare the CSA with other criteria in the diagnosis of A-T. Results: When cells were irradiated with 1.0 Gy, the mean survival fraction (muSF +/- 1 SD) for patients with A-T was 13.1% +/- 7.2% compared with 50.1% 13.5% for healthy control patients. These data served to define a diagnostic range for the CSA (ie, <21%), a normal range (>36%), and a nondiagnostic intermediate range of 21% to 36%. The mutations of patients with A-T with intermediate radiosensitivity tended to cluster around the functional domains of the ATM gene. Conclusions:The CSA is a useful adjunctive test for confirming an early clinical diagnosis of A-T However, CSA is also abnormal in other chromosomal instability and immunodeficiency disorders.
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