title: Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity.
abstract: We identified a subgroup of ataxia-telangiectasia (AT) patients (2 sibs and 1 unrelated case) characterized by typical clinical manifestations of the disease and cellular radiosensitivity intermediate between classical AT and normal subjects. Our data and a literature review of the intermediate radiosensitivity AT cases show that radioresistant DNA synthesis, cellular radiosensitivity (measured in terms of survival and chromosome breakage), and the clinical hallmarks behave independently. This raises a number of interesting questions about the correlation between radiobiological and clinical features, and about the nature of the AT gene(s).
authors.affiliation: Dipartimento di Medicina Sperimentale, Università La Sapienza, Roma, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Chessa
authors.forename: P
authors.initials: P
authors.lastname: Petrinelli
authors.forename: A
authors.initials: A
authors.lastname: Antonelli
authors.forename: M
authors.initials: M
authors.lastname: Fiorilli
authors.forename: R
authors.initials: R
authors.lastname: Elli
authors.forename: L
authors.initials: L
authors.lastname: Marcucci
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: E
authors.initials: E
authors.lastname: Gandini
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002461:Cell Line, Transformed; D002470:Cell Survival / Q000235:genetics / Q000528:radiation effects; D002478:Cells, Cultured; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004247:DNA / Q000096:biosynthesis; D005260:Female; D005720:Gamma Rays; D006801:Humans; D008297:Male; D010641:Phenotype; D011836:Radiation Tolerance / Q000235:genetics*
chemical_list: D004247:DNA