{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T07:36:21Z","timestamp":1770968181070,"version":"3.50.1"},"reference-count":25,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,11]]},"abstract":"<jats:p>Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultured fibroblasts and PHA stimulated lymphocytes from these two patients showed a smaller increase of radiosensitivity than cells from other A-T patients, as measured by colony forming ability or induced chromosome damage respectively, after exposure to ionising radiation. The response of DNA synthesis to irradiation of these cells was, however, the same as for other A-T patients. Cells from a third patient with some clinical features of A-T but with a very protracted course also showed low levels of radiation induced chromosome damage, but colony forming ability and the response of DNA synthesis after irradiation were no different from cells of normal subjects. There was, however, an increased level of translocations and unstable chromosomal rearrangements in this patient's lymphocytes.<\/jats:p>","DOI":"10.1136\/jmg.24.11.669","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"669-677","source":"Crossref","is-referenced-by-count":62,"title":["Variant forms of ataxia telangiectasia."],"prefix":"10.1136","volume":"24","author":[{"given":"A M","family":"Taylor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Flude","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Laher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Stacey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"McKay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Watt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S H","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A E","family":"Harding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,11,1]]},"reference":[{"key":"ref_1","article-title":"Neurological abnormalities in ataxia telangiectasia","volume-title":"telangiectasia-a cellular and molecular link betweetn cancer, neuropathology, and immune deficiency","author":"Sedgwick, R.P.","year":"1982","unstructured":"Sedgwick RP. Neurological abnormalities in ataxia telangiectasia. In: Bridges BA, Harnden DG, eds. Ataxia telangiectasia-a cellular and molecular link betweetn cancer, neuropathology, and immune deficiency. Chichester: John Wiley, 1982;23-35."},{"key":"ref_2","first-page":"145","article-title":"Clinical and immunological studies in twenty families with ataxia telangiectasia","volume":"16","author":"Ersoy, F.; Al, Berkel","year":"1974","unstructured":"Ersoy F, Berkel Al. Clinical and immunological studies in twenty families with ataxia telangiectasia. Turk J Pediatr 1974;16: 145-60.","journal-title":"Turk J Pediatr"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1016\/S0140-6736(72)92717-1","article-title":"Serum alpha-foetoprotein levels in patients with ataxia telangiectasia","volume":"ii:","author":"Waldmann, T.A.; McIntire, K.R.","year":"1972","unstructured":"Waldmann TA, McIntire KR. Serum alpha-foetoprotein levels in patients with ataxia telangiectasia. Lancet 1972;ii:1112-5.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1172\/JCI110768","article-title":"Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia","volume":"71","author":"Waldmann, T.A.; Goldman, Broder S.; CK, Frost; K, Korsmeyer; SJ, Medici; M.A.","year":"1983","unstructured":"Waldmann TA, Broder S. Goldman CK, Frost K, Korsmeyer SJ, Medici MA. Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia. J Clin Invest 1983;71:282-95.","journal-title":"J Clin Invest"},{"key":"ref_5","article-title":"Cytogenetics of ataxia telangiectasia","volume-title":"telangiectasia-a cellular a, td molecular link between cancer, neuropathology, and imtnunie deficiency","author":"Taylor, A.M.R.","year":"1982","unstructured":"Taylor AMR. Cytogenetics of ataxia telangiectasia. In: Bridges BA, Harnden DG, eds. Ataxia telangiectasia-a cellular a,td molecular link between cancer, neuropathology, and imtnunie deficiency. Chichester: John Wiley, 1982;53-81."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1136\/bmj.2.6140.802","article-title":"Presumed ataxia telangiectasia in a man","volume":"ii:","author":"Terenty, T.R.; Robson, P.; Walton, J.N.","year":"1978","unstructured":"Terenty TR, Robson P, Walton JN. Presumed ataxia telangiectasia in a man. Br Med J 1978;ii:802.","journal-title":"Br Med J"},{"key":"ref_7","article-title":"Carcinofetal proteins in ataxia telangiectasia: a cancer report","volume-title":"telangiectasia-a cellular and molecular link between cancer, neuropathology, atnd imnnunie deficiency","author":"Sedgwick, R.P.","year":"1982","unstructured":"Sedgwick RP. Carcinofetal proteins in ataxia telangiectasia: a cancer report. In: Bridges BA, Harnden DG, eds. Ataxia telangiectasia-a cellular and molecular link between cancer, neuropathology, atnd imnnunie deficiency. Chichester: John Wiley. 1982;387-91."},{"key":"ref_8","article-title":"Ataxia telangiectasia: genetics and heterogeneity","volume-title":"telanigiectasia-a cellular anid mnolecular linik betweetn cancer, neuropathology, anid immnunie deficiencY","author":"lIecht F. Kaiser-McCaw B","year":"1982","unstructured":"lIecht F. Kaiser-McCaw B. Ataxia telangiectasia: genetics and heterogeneity. In: Bridges BA, Harnden DG, eds. Ataxia telanigiectasia-a cellular anid mnolecular linik betweetn cancer, neuropathology, anid immnunie deficiencY. Chichester: John Wilev, 1982,197-201."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1136\/adc.53.5.386","article-title":"Ataxia telangiectasia, evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test","volume":"53","author":"Cox, R.; Hosking, P.; Wilson, J.","year":"1978","unstructured":"Cox R, Hosking P, Wilson J. Ataxia telangiectasia, evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test. Arch Dis Child 1978;53:386-90.","journal-title":"Arch Dis Child"},{"key":"ref_10","first-page":"311","article-title":"Cytogenetic anomalies in a patient with ataxia. immune deficiency and high alphafoetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 1981","volume":"4","author":"Ying, K.L.; Deccoteau, W.E.","year":";","unstructured":"Ying KL, Deccoteau WE. Cytogenetic anomalies in a patient with ataxia. immune deficiency and high alphafoetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 1981:;4:311-7."},{"key":"ref_11","first-page":"274","article-title":"Variant of ataxia telangiectasia with low-level radiosensitivity","volume":"70","author":"Fiorilli, M.; Antonelli, A.; Russo, G.; Crescendi, M.; Carbonari, M.; Petrinclli, P.","year":"1985","unstructured":"Fiorilli M, Antonelli A, Russo G, Crescendi M, Carbonari M, Petrinclli P. Variant of ataxia telangiectasia with low-level radiosensitivity. Hum Genet 1985;70:274-7.","journal-title":"Hum Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1073\/pnas.79.6.1960","article-title":"Complementation of the defect in DNA synthesis in irradiated and unirradiated ataxia telangiectasia cells","volume":"79","author":"Murnane, J.P.; Painter, R.B.","year":"1982","unstructured":"Murnane JP, Painter RB. Complementation of the defect in DNA synthesis in irradiated and unirradiated ataxia telangiectasia cells. Proc Natl Acad Sci USA 1982:79:1960-3.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1073\/pnas.79.8.2641","article-title":"Genetic heterogeneity in ataxia telangiectasia studied by cell fusion","volume":"79","author":"D, Jaspers N.G.J.I.Bootsma","year":"1982","unstructured":"Jaspers NGJI. Bootsma D. Genetic heterogeneity in ataxia telangiectasia studied by cell fusion. Proc Natl Acad Sci USA 1982;79:2641-4.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_14","first-page":"23","article-title":"fiypersensitivity to ionising radiation in vitro in a new chromosome breakage disorder, the Nijmegen breakage syndrome","volume":"112","author":"NGJ, Taalman R.D.F.M.Jaspers; JMJC, Scheres; de Wit J; TWJ, Hustinx","year":"1983","unstructured":"Taalman RDFM. Jaspers NGJ, Scheres JMJC, de Wit J, Hustinx TWJ. fiypersensitivity to ionising radiation in vitro in a new chromosome breakage disorder, the Nijmegen breakage syndrome. Mutat Res 1983;112:23-32.","journal-title":"Mutat Res"},{"key":"ref_15","first-page":"557","article-title":"Karyotype instability with multiple 7\/14 and 7\/7 rearrangements. Humn Geniet 1979; 49: 199-208. ' Weemaes CMR, Hustinx JWJ. Scheres JMJC. van Munster PJJ, Bakkeren JAJM, Taalman RDFM. A new chromosomal instability disorder. The Nijmegen breakage syndrome","volume":"70","author":"Hustinx, T.W.J.; Scheres, J.M.J.C.; Weemacs, C.M.R.; ter Haar, B.G.A.; Janssen, A.H.","year":"1981","unstructured":"Hustinx TWJ, Scheres JMJC, Weemacs CMR, ter Haar BGA, Janssen AH. Karyotype instability with multiple 7\/14 and 7\/7 rearrangements. Humn Geniet 1979;49:199-208. ' Weemaes CMR, Hustinx JWJ. Scheres JMJC. van Munster PJJ, Bakkeren JAJM, Taalman RDFM. A new chromosomal instability disorder. The Nijmegen breakage syndrome. Acta Paediatr Scand 1981;70:557-64.","journal-title":"Acta Paediatr Scand"},{"key":"ref_16","first-page":"311","article-title":"Spontaneous cytogenetic aberrations in lymphocytes from thirteen patients with ataxia telangiectasia","volume":"27","author":"T'aylor, A.M.R.; Oxford, J.M.; Metcalfe, J.A.","year":"1981","unstructured":"T'aylor AMR, Oxford JM, Metcalfe JA. Spontaneous cytogenetic aberrations in lymphocytes from thirteen patients with ataxia telangiectasia. Itit J Cancer 1981;27:311-9.","journal-title":"Itit J Cancer"},{"key":"ref_17","first-page":"92","article-title":"X-ray sensitivity of fifty three human diploid fibroblast cell strains from patients with characterised genetic disorders","volume":"40","author":"Weichselbaum, R.R.; Nove, J.; Little, J.B.","year":"1980","unstructured":"Weichselbaum RR, Nove J, Little JB. X-ray sensitivity of fifty three human diploid fibroblast cell strains from patients with characterised genetic disorders. 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Effect of ionising radiation on DNA synthesis in ataxia telangiectasia cells. Nucleic Acids Res 1980;8:3709-20.","journal-title":"Nucleic Acids Res"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/287745a0","article-title":"Unusual level of (ADP-ribose)n and DNA synthesis in ataxia telangiectasia cells following yirradiation","volume":"287","author":"Edwards, M.J.; Taylor, A.M.R.","year":"1980","unstructured":"Edwards MJ, Taylor AMR. Unusual level of (ADP-ribose)n and DNA synthesis in ataxia telangiectasia cells following yirradiation. Nature 1980;287:745-7.","journal-title":"Nature"},{"key":"ref_21","first-page":"335","article-title":"Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents","volume":"42","author":"Jaspers, N.G.J.; de Wit, J.; Regulski, M.R.; Bootsma, D.","year":"1982","unstructured":"Jaspers NGJ, de Wit J, Regulski MR, Bootsma D. Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents. Cancer Res 1982;42:335-41.","journal-title":"Cancer Res"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/S0006-291X(81)80175-1","article-title":"Bleomycin induced inhibition of DNA synthesis in ataxia telangiectasia cell line","volume":"102","author":"Edwards, M.J.; Taylor, A.M.R.; Flude, E.J.","year":"1981","unstructured":"Edwards MJ, Taylor AMR, Flude EJ. Bleomycin induced inhibition of DNA synthesis in ataxia telangiectasia cell line. Biochem Biophys Res Commnutz 1981;102:610-6.","journal-title":"Biochem Biophys Res Commnutz"},{"key":"ref_23","first-page":"2700","article-title":"The effect of the DNA strand cleaving antitumour agent streptonigrin in ataxia telangiectasia cells","volume":"43","author":"Taylor, A.M.R.; Flude, E.; Garner, C.R.; Campbell, J.; Edwards, M.J.","year":"1983","unstructured":"Taylor AMR, Flude E, Garner CR, Campbell J, Edwards MJ. The effect of the DNA strand cleaving antitumour agent streptonigrin in ataxia telangiectasia cells. Cancer Res 1983;43:2700-3.","journal-title":"Cancer Res"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1093\/carcin\/4.10.1317","article-title":"Abnormal responsc of ataxia telangiectasia cells to agents that break the deoxyribose moiety of DNA via a targeted free radical mechanism","volume":"4","author":"Shiloh, Y.; Tabor, E.; Becker, Y.","year":"1983","unstructured":"Shiloh Y, Tabor E, Becker Y. Abnormal responsc of ataxia telangiectasia cells to agents that break the deoxyribose moiety of DNA via a targeted free radical mechanism. Carcinogenesis 1983;4:1317-22.","journal-title":"Carcinogenesis"},{"key":"ref_25","first-page":"639","article-title":"A derivative of an ataxia telangiectasia (A-T) cell line with normal radiosensitivity, but A-T like inhibition of DNA synthesis","volume":"49","author":"Lehmann, A.R.; Arlett, C.F.; Burke, J.F.; Green, M.H.L.; James, M.R.; Lowe, J.E.","year":"1986","unstructured":"Lehmann AR, Arlett CF, Burke JF, Green MHL, James MR, Lowe JE. A derivative of an ataxia telangiectasia (A-T) cell line with normal radiosensitivity, but A-T like inhibition of DNA synthesis. 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