Ataxia–telangiectasia, an evolving phenotype

DNA Repair - Tập 3 - Trang 1187-1196 - 2004
Helen H Chun1, Richard A Gatti1
1Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1732, USA

Tài liệu tham khảo

Boder, 1958, A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia, and frequent pulmonary infection, Pediatrics, 21, 526, 10.1542/peds.21.4.526 E. Boder, Ataxia–telangiectasia: an overview, in: R.A. Gatti, A. Swift (Eds.), Ataxia–Telangiectasia, Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood, Alan R. Liss, New York, 1985, pp. 1–63. Gatti, 1991, Ataxia–telangiectasia: an interdisciplinary approach to pathogenesis, Medicine, 70, 99, 10.1097/00005792-199103000-00003 R.A. Gatti, Ataxia–telangiectasia, in: B. Vogelstein, K.W. Kinzler (Eds.), The Genetic Basis of Human Cancer, Mc Graw-Hill, New York, 2002, pp. 239–266. Perlman, 2003, Ataxia–telangiectasia: diagnosis and treatment, Semin. Pediatr. Neurol., 10, 173, 10.1016/S1071-9091(03)00026-3 H.H. Chun, X. Sun, S.A. Nahas, S. Teraoka, C.-H. Lai, P. Concannon, R.A. Gatti, Improved diagnostic testing for ataxia–telangiectasia by immunoblotting of nuclear lysates for ATM protein expression, Mol. Genet. Metab. 80 (2003) 437–443. Gotoff, 1967, Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis, Am. J. Dis. Child., 114, 617, 10.1001/archpedi.1967.02090270073006 Taylor, 1975, Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity, Nature, 258, 427, 10.1038/258427a0 Young, 1989, Radioresistant DNA synthesis and human genetic diseases, Hum. Genet., 82, 113, 10.1007/BF00284040 Huo, 1994, Radiosensitivity of ataxia–telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay, Cancer Res., 54, 2544 Sun, 2002, Early diagnosis of ataxia–telangiectasia using radiosensitivity testing, J. Pediatr., 140, 724, 10.1067/mpd.2002.123879 Gatti, 2001, The inherited basis of human radiosensitivity, Acta Oncol., 40, 702, 10.1080/02841860152619115 Riballo, 1999, Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient, Curr. Biol., 9, 699, 10.1016/S0960-9822(99)80311-X Bakhshi, 2003, Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome, J. Pediatr. Hematol. Oncol., 25, 248, 10.1097/00043426-200303000-00013 Bakkenist, 2003, DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation, Nature, 421, 499, 10.1038/nature01368 Tavani, 2003, Ataxia–telangiectasia: the pattern of cerebellar atrophy on MRI, Neuroradiology, 45, 315, 10.1007/s00234-003-0945-9 Gatti, 1985, Cerebellar pathology in ataxia–telangiectasia: the significance of basket cells, Kroc. Found Ser., 19, 225 Vinters, 1985, Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia–telangiectasia, Kroc. Found Ser., 19, 233 Sanal, 1999, Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia–telangiectasia, J. Clin. Immunol., 19, 326, 10.1023/A:1020599810261 Metcalfe, 1996, Accelerated telomere shortening in ataxia telangiectasia, Nat. Genet., 13, 350, 10.1038/ng0796-350 Gilad, 1998, Genotype–phenotype relationships in ataxia–telangiectasia and variants, Am. J. Hum. Genet., 62, 551, 10.1086/301755 Becker-Catania, 2000, Ataxia–telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity, Mol. Genet. Metab., 70, 122, 10.1006/mgme.2000.2998 Concannon, 1997, Diversity of ATM gene mutations detected in patients with ataxia–telangiectasia, Hum. Mutat., 10, 100, 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O Mitui, 2003, Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate, Hum. Mutat., 22, 43, 10.1002/humu.10232 Lee, 2000, ATM dependent apoptosis in the nervous system, Apoptosis, 5, 523, 10.1023/A:1009637512917 Lee, 2001, Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status, J. Neurosci., 21, 6687, 10.1523/JNEUROSCI.21-17-06687.2001 McKinnon, 2001, Ataxia telangiectasia: new neurons and ATM, Trends Mol. Med., 7, 233, 10.1016/S1471-4914(01)02035-4 Borghesani, 2000, Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice, Proc. Natl. Acad. Sci. U.S.A., 97, 3336, 10.1073/pnas.97.7.3336 Barlow, 1999, Loss of the ataxia–telangiectasia gene product causes oxidative damage in target organs, Proc. Natl. Acad. Sci. U.S.A., 96, 9915, 10.1073/pnas.96.17.9915 Uziel, 2003, Requirement of the MRN complex for ATM activation by DNA damage, EMBO J., 22, 5612, 10.1093/emboj/cdg541 Date, 2001, Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene, Nat. Genet., 29, 184, 10.1038/ng1001-184 Moreira, 2001, The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin, Nat. Genet., 29, 189, 10.1038/ng1001-189 Le Ber, 2003, Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies, Brain, 126, 2761, 10.1093/brain/awg283 M.C. Moreira, S. Klur, M. Watanabe, A.H. Nemeth, I. Le Ber, J.-C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, L. Scols, M. Pandolfo, J.B. Schulz, J. Pouget, P. Calvas, M. Shizuka-Ikeda, M. Shoji, M. Tanaka, L. Izatt, C.E. Shaw, A. M’Zahem, E. Hunne, P. Bomont, T. Benhassine, N. Bouslam, G. Stevanin, A. Brice, J. Buimaraes, P. Mendonca, C. Barbot, P. Countinho, J. Sequeiros, A. Durr, J.M. Warter, M. Koenig, Senataxin, the ortholog of a yeast RNA helicasse, is mutant in ataxia-ocular apraxia 2. Nat. Genet., Advance Online Publication, 8 February 2004. Cabana, 1998, Consequences of the delayed diagnosis of ataxia–telangiectasia, Pediatrics, 102, 98, 10.1542/peds.102.1.98 Willems, 1993, Atypical clinical presentation of ataxia telangiectasia, Am. J. Med. Genet., 45, 777, 10.1002/ajmg.1320450624 Syllaba, 1926, Contribution a l’independance de l’athetose double idiopathique et congenitale, Rev. Neurol., 1, 541 Stankovic, 1998, ATM mutations and phenotypes in ataxia–telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer, Am. J. Hum. Genet., 62, 334, 10.1086/301706 Stewart, 2001, Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T → G mutations, showing a less severe phenotype, J. Biol. Chem., 276, 30133, 10.1074/jbc.M103160200 P.J. Byrd, S. Pitts, T. Stankovic, G. Stewart, J.I.K. Last, A.M.R. Taylor, An Ataxia–Telangiectasia Patient Showing a de novo ATM Mutation: Ataxia–Telangiectasia and ATM 2002 International Symposium, Boston, MA, 29 May–1 June 2002. McVey, 1993, A G → A substitution in an HNF I binding site in the human alpha-fetoprotein gene is associated with hereditary persistence of alpha-fetoprotein (HPAFP), Hum. Mol. Genet., 2, 379, 10.1093/hmg/2.4.379 Weemaes, 1981, A new chromosomal instability disorder: the Nijmegen breakage syndrome, Acta Paediatr. Scand., 70, 557, 10.1111/j.1651-2227.1981.tb05740.x Heil, 2000, Nijmegen breakage syndrome, Arch. Dis. Child., 82, 400, 10.1136/adc.82.5.400 Jaspers, 1988, Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients, Cytogenet. Cell Genet., 49, 259, 10.1159/000132673 Gatti, 1988, Localization of an ataxia–telangiectasia gene to chromosome 11q22–23, Nature, 336, 577, 10.1038/336577a0 Stumm, 1995, The ataxia–telangiectasia-variant genes 1 and 2 are distinct from the ataxia–telangiectasia gene on chromosome 11q23.1, Am. J. Hum. Genet., 57, 960 Saar, 1997, The gene for the ataxia–telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21, Am. J. Hum. Genet., 60, 605 Cerosaletti, 1998, Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype, Am. J. Hum. Genet., 63, 125, 10.1086/301927 Varon, 1998, Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome, Cell, 93, 467, 10.1016/S0092-8674(00)81174-5 Aicardi, 1988, Ataxia-ocular motor apraxia: a syndrome mimicking ataxia–telangiectasia, Ann. Neurol., 24, 497, 10.1002/ana.410240404 Nemeth, 2000, Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia–telangiectasia-like syndrome) is linked to chromosome 9q34, Am. J. Hum. Genet., 67, 1320 Thorstensen, 2001, Global analysis of ATM polymorphism reveals significant functional constraint, Am. J. Hum. Genet., 69, 396, 10.1086/321296 Campbell, 2003, ATM mutations on distinct SNP and STR haplotypes in ataxia–telangiectasia patients of differing ethnicities reveal ancestral founder effects, Hum. Mutat., 21, 80, 10.1002/humu.10156 Telatar, 1998, Ataxia–telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations, Am. J. Hum. Genet., 62, 86, 10.1086/301673 G. Coutinho, M. Mitui, C. Campbell, B.T.C. Carvalho, S. Nahas, X. Sun, Y. Huo, C.-H. Lai, Y. Thorstenson, R. Tanouye, S. Raskin, C.A. Kim, J. Llerena Jr., R.A. Gatti, Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations, Am. J. Med. Genet. 126A (2004) 33–40. L. Eng, G. Coutinho, S. Nahas, G. Yeo, R. Tanouye, M. Babaei, T. Dork, C. Burge, R.A. Gatti, Non-classical splicing mutations in the coding and non-coding regions of the ATM gene: maximum entropy estimates of splice junction strengths, Hum. Mutat. 23 (2004) 67–76. McConville, 1996, Mutations associated with variant phenotypes in ataxia–telangiectasia, Am. J. Hum. Genet., 59, 320 Lakin, 1996, Analysis of the ATM protein in wild-type and ataxia telangiectasia cells, Oncogene, 13, 2707 Saviozzi, 2002, A late onset variant of ataxia–telangiectasia with a compound heterozygous genotype, A8030G/7481insA, J. Med. Genet., 39, 57, 10.1136/jmg.39.1.57 Scott, 2002, Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer, Proc. Natl. Acad. Sci. U.S.A., 99, 925, 10.1073/pnas.012329699 Baumer, 1996, New mutations in the ataxia telangiectasia gene, Hum. Genet., 98, 246, 10.1007/s004390050202 van Belzen, 1998, A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia, Hum. Genet., 102, 187, 10.1007/s004390050675 Sandoval, 1999, Characterization of ATM gene mutations in 66 ataxia telangiectasia families, Hum. Mol. Genet., 8, 69, 10.1093/hmg/8.1.69 Angele, 2003, Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation, Hum. Mutat., 21, 169, 10.1002/humu.9107 Curry, 1989, ATFresno: a phenotype linking ataxia–telangiectasia with the Nijmegen breakage syndrome, Am. J. Hum. Genet., 45, 270