A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype

European Journal of Medical Genetics

Volumn 50, Issue 3, 2007, Pages 176-187

  Berardinelli, F ^a   di Masi, A ^a   Salvatore, M ^b   Banerjee, S ^c   Myung, K ^c   De Villartay, J P ^d   Revy, P ^d   Plebani, A ^e   Soresina, A ^e   Taruscio, D ^b   Tanzarella, C ^a   Antoccia, A ^a  

^a ROMA TRE UNIVERSITY   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Istituto Angelo Novicelli   (Italy)

Author keywords

Chromosomal instability syndromes; Congenital microcephaly; NBS; NBS like; Radiosensitivity

Indexed keywords

ATR PROTEIN; DOUBLE STRANDED DNA; IMMUNOGLOBULIN; MRE11 PROTEIN; NIBRIN; RAD50 PROTEIN;

ANAMNESIS; ARTICLE; CANCER SUSCEPTIBILITY; CASE REPORT; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATION; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DNA REPAIR; DNA STRAND BREAKAGE; FACE DYSMORPHIA; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC STABILITY; HUMAN; HYPOGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PHENOTYPE; RADIOSENSITIVITY; SEROLOGY; SPECTRAL KARYOTYPING; SUBSTITUTION THERAPY; TELOMERE; X RAY;

CELL CYCLE PROTEINS; CHROMOSOMES, HUMAN; CRANIOFACIAL ABNORMALITIES; DNA REPAIR; FEMALE; HUMANS; MALE; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; PHENOTYPE; RADIATION TOLERANCE; TELOMERE;

EID: 34248579517     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.01.006     Document Type: Article

References (29)

1. Antoccia A., Kobayashi J., Tauchi H., Matsuura S., and Komatsu K. Nijmegen breakage syndrome and functions of the responsible protein, NBS1. In: Volff J.-N. (Ed). Genome and Disease. Genome Dyn vol. 1 (2006), Karger, Basel 191-205
2. Bai Y., and Murnane J.P. Telomere instability in a human tumor cell line expressing NBS1 with mutations at sites phosphorylated by ATM. Mol. Cancer Res. 1 (2003) 1058-1069
3. Bakkenist C.J., and Kastan M.B. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 421 (2003) 499-506
4. Ben-Omran T.I., Cerosaletti K., Concannon P., Weitzman S., and Nezarati M.M. A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. Am. J. Med. Genet. 137 (2005) 283-287
5. Buck D., Malivert L., de Chasseval R., Barraud A., Fondaneche M.C., Sanal O., Plebani A., Stephan J.L., Hufnagel M., le Deist F., Fisscher A., Durandy A., de Villartay J.P., and Revy P. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124 (2006) 260-262
6. Cabuy E., Newton C., Joksic G., Woodbine L., Koller B., Jeggo P.A., and Slijepcevic P. Accelerated telomere shortening and telomere abnormalities in radiosensitive cell lines. Radiat. Res. 164 (2005) 53-62
7. Carney J.P., Maser R.S., Olivares H., Davis E.M., Le Beau M., Yates III J.R., Hays L., Morgan W.F., and Petrini J.H. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93 (1998) 477-486
8. Cerosaletti K.M., Lange E., Stringham H.M., Weemaes C.M., Smeets D., Solder B., Belohradsky B.H., Taylor A.M., Karnes P., Elliott A., Komatsu K., Gatti R.A., Boehnke M., and Concannon P. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. Am. J. Hum. Genet. 63 (1998) 125-134
9. P.J. Concannon, R.A. Gatti, Nijmegen Breakage Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online] [2003]. Copyright, University of Washington, Seattle. 1997-2005. Available at http://www.genetests.org.
10. Digweed M., and Sperling K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst.) 3 (2004) 1207-1217
11. Goytisolo F.A., and Blasco M.A. Many ways to telomere dysfunction: in vivo studies using mouse models. Oncogene 21 (2002) 584-591
12. Hande P., Slijepcevic P., Silver A., Bouffler S., van Buul P., Bryant P., and Lansdorp P. Elongated telomeres in scid mice. Genomics 56 (1999) 221-223
13. Hiel J.A., Weemaes C.M., van Engelen B.G., Smeets D., Ligtenberg M., van Der Burgt I., van Den Heuvel L.P., Cerosaletti K.M., Gabreels F.J., and Concannon P. Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1. J. Med. Genet. 38 (2001) E19
14. Lee J.H., and Paull T.T. ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science 308 (2005) 551-554
15. Lobrich M., and Jeggo P.A. The two edges of the ATM sword: co-operation between repair and checkpoint functions. Radiother. Oncol. 76 (2005) 112-118
16. Maraschio P., Spadoni E., Tanzarella C., Antoccia A., Di Masi A., Maghnie M., Varon R., Demuth I., Tiepolo L., and Danesino C. Genetic heterogeneity for a Nijmegen breakage-like syndrome. Clin. Genet. 63 (2003) 283-290
17. Matsuura S., Tauchi H., Nakamura A., Kondo N., Sakamoto S., Endo S., Smeets D., Solder B., Belohradsky B.H., Der Kaloustian V.M., Oshimura M., Isomura M., Nakamura Y., and Komatsu K. Positional cloning of the gene for Nijmegen breakage syndrome. Nat. Genet. 19 (1998) 179-181
18. Myung K., Ghosh G., Fattah F.J., Li G., Kim H., Dutia A., Pak E., Smith S., and Hendrickson E.A. Regulation of telomere length and suppression of genomic instability in human somatic cells by Ku86. Mol. Cell Biol. 24 (2004) 5050-5059
19. O'Driscoll M., Cerosaletti K.M., Girard P.M., Dai Y., Stumm M., Kysela B., Hirsch B., Gennery A., Palmer S.E., Seidel J., Gatti R.A., Varon R., Oettinger M.A., Neitzel H., Jeggo P.A., and Concannon P. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol. Cell 8 (2001) 1175-1185
20. O'Driscoll M., Ruiz-Perez V.L., Woods C.G., Jeggo P.A., and Goodship J.A. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat. Genet. 33 (2003) 497-501
21. Saar K., Chrzanowska K.H., Stumm M., Jung M., Nurnberg G., Wienker T.F., Seemanova E., Wegner R.D., Reis A., and Sperling K. The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am. J. Hum. Genet. 60 (1997) 605-610
22. Slijepcevic P. Is there a link between telomere maintenance and radiosensitivity?. Radiat. Res. 161 (2004) 82-86
23. Smith S., Gupta A., Kolodner R.D., and Myung K. Suppression of gross chromosomal rearrangements by the multiple functions of the Mre11-Rad50-Xrs2 complex in Saccharomyces cerevisiae. DNA Repair 4 (2005) 606-617
24. The International Nijmegen Breakage Syndrome Study Group. Nijmegen Breakage Syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch. Dis. Child 82 (2000) 400-406
25. Varon R., Vissinga C., Platzer M., Cerosaletti K.M., Chrzanowska K.H., Saar K., Beckmann G., Seemanova E., Cooper P.R., Nowak N.J., Stumm M., Weemaes C.M., Gatti R.A., Wilson R.K., Digweed M., Rosenthal A., Sperling K., Concannon P., and Reis A. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93 (1998) 467-476
26. Weemaes C.M.R., Hustinx T.W.J., Scheres J.M.J.C., van Munster P.J.J., Bakkeren J.A.J.M., and Taalman R.D.F.M. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Pediat. Scand. 70 (1981) 557-564
27. Yamada M., Matsuura S., Tsukahara M., Ebe K., Ohtsu M., Furuta H., Kobayashi I., Kawamura N., Okano M., Shouji R., and Kobayashi K. Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl. Am. J. Med. Genet. 100 (2001) 9-12
28. You Z., Chahwan C., Bailis J., Hunter T., and Russell P. ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1. Mol. Cell Biol. 25 (2005) 5363-5379
29. Zgheib O., Huyen Y., Di Tullio Jr. R.A., Snyder A., Venere M., Stavridi E.S., and Halazonetis T.D. ATM signalling and 53BP1. Radiother. Oncol. 76 (2005) 119-122