{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T18:29:34Z","timestamp":1780079374040,"version":"3.54.0"},"reference-count":54,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T00:00:00Z","timestamp":1184284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ataxia\u2010telangiectasia (A\u2010T) is an autosomal recessive disorder characterized by progressive neurodegeneration, immunodeficiency, susceptibility to cancer, genomic instability, and sensitivity to ionizing radiation. A\u2010T is caused by mutations that eliminate or inactivate the nuclear protein kinase ATM, the chief activator of the cellular response to double strand breaks (DSBs) in the DNA. Mild A\u2010T is usually caused by <jats:italic>ATM<\/jats:italic> mutations that leave residual amounts of active ATM. We studied two siblings with mild A\u2010T, as defined by clinical examination and a quantitative A\u2010T neurological index. Surprisingly, no ATM was detected in the patients' cells, and sequence analysis revealed that they were homozygous for a truncating <jats:italic>ATM<\/jats:italic> mutation (5653delA) that is expected to lead to the classical, severe neurological presentation. Moreover, the cellular phenotype of these patients was indistinguishable from that of classical A\u2010T: all the tested parameters of the DSB response were severely defective as in typical A\u2010T. This analysis shows that the severity of the neurological component of A\u2010T is determined not only by <jats:italic>ATM<\/jats:italic> mutations but also by other influences yet to be found. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31853","type":"journal-article","created":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T23:22:50Z","timestamp":1184368970000},"page":"1827-1834","source":"Crossref","is-referenced-by-count":50,"title":["Ataxia\u2010telangiectasia: Mild neurological presentation despite null <i>ATM<\/i> mutation and severe cellular phenotype"],"prefix":"10.1002","volume":"143A","author":[{"given":"Neora","family":"Alterman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aviva","family":"Fattal\u2010Valevski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilach","family":"Moyal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas O.","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard M.","family":"Lederman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Ziv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosef","family":"Shiloh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2004.04.002"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.06.023"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80086-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.2998"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1007902"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.7.3336"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:5<330::AID-HUMU6>3.0.CO;2-H"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.102.1.98"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg630"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2004.04.010"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.09.008"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0020110"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1071-9091(98)80007-7"},{"key":"e_1_2_7_15_1","unstructured":"CrawfordTO.2000.Chapter 4\u2014Neurology problems. 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