Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1996 Feb;33(2):153–156. doi: 10.1136/jmg.33.2.153

Nijmegen breakage syndrome.

I van der Burgt 1, K H Chrzanowska 1, D Smeets 1, C Weemaes 1
PMCID: PMC1051843  PMID: 8929954

Abstract

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.

Full text

PDF
153

Images in this article

154Image
on p.154
154Image
on p.154

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abadir R., Hakami N. Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses. Br J Radiol. 1983 May;56(665):343–345. doi: 10.1259/0007-1285-56-665-343. [DOI] [PubMed] [Google Scholar]
  2. Aurias A., Dutrillaux B., Buriot D., Lejeune J. High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia. Mutat Res. 1980 Feb;69(2):369–374. doi: 10.1016/0027-5107(80)90101-3. [DOI] [PubMed] [Google Scholar]
  3. Barbi G., Scheres J. M., Schindler D., Taalman R. D., Rodens K., Mehnert K., Müller M., Seyschab H. Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. Am J Med Genet. 1991 Jul 1;40(1):44–50. doi: 10.1002/ajmg.1320400109. [DOI] [PubMed] [Google Scholar]
  4. Chrzanowska K. H., Kleijer W. J., Krajewska-Walasek M., Białecka M., Gutkowska A., Goryluk-Kozakiewicz B., Michałkiewicz J., Stachowski J., Gregorek H., Lysón-Wojciechowska G. Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet. 1995 Jul 3;57(3):462–471. doi: 10.1002/ajmg.1320570321. [DOI] [PubMed] [Google Scholar]
  5. Conley M. E., Spinner N. B., Emanuel B. S., Nowell P. C., Nichols W. W. A chromosomal breakage syndrome with profound immunodeficiency. Blood. 1986 May;67(5):1251–1256. [PubMed] [Google Scholar]
  6. Curry C. J., O'Lague P., Tsai J., Hutchison H. T., Jaspers N. G., Wara D., Gatti R. A., Hutchinson H. T. ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet. 1989 Aug;45(2):270–275. [PMC free article] [PubMed] [Google Scholar]
  7. Gatti R. A., McConville C. M., Taylor A. M. Sixth international workshop on ataxia-telangiectasia. Cancer Res. 1994 Nov 15;54(22):6007–6010. [PubMed] [Google Scholar]
  8. Hart R. M., Kimler B. F., Evans R. G., Park C. H. Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia. Int J Radiat Oncol Biol Phys. 1987 Aug;13(8):1237–1240. doi: 10.1016/0360-3016(87)90200-8. [DOI] [PubMed] [Google Scholar]
  9. Howells R. Maternal age, somatic mosaicism, and Alzheimer disease. Am J Hum Genet. 1992 Jun;50(6):1342–1343. [PMC free article] [PubMed] [Google Scholar]
  10. Jaspers N. G., Gatti R. A., Baan C., Linssen P. C., Bootsma D. Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet. 1988;49(4):259–263. doi: 10.1159/000132673. [DOI] [PubMed] [Google Scholar]
  11. Jaspers N. G., Taalman R. D., Baan C. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am J Hum Genet. 1988 Jan;42(1):66–73. [PMC free article] [PubMed] [Google Scholar]
  12. Jaspers N. G., van der Kraan M., Linssen P. C., Maçek M., Seemanová E., Kleijer W. J. First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis. Prenat Diagn. 1990 Oct;10(10):667–674. doi: 10.1002/pd.1970101006. [DOI] [PubMed] [Google Scholar]
  13. Kleijer W. J., van der Kraan M., Los F. J., Jaspers N. G. Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage syndrome by the assay of radioresistant DNA synthesis. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S167–S174. [PubMed] [Google Scholar]
  14. McConville C. M., Byrd P. J., Ambrose H. J., Taylor A. M. Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome 11q22-q23. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S45–S56. [PubMed] [Google Scholar]
  15. Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D. A., Smith S., Uziel T., Sfez S. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995 Jun 23;268(5218):1749–1753. doi: 10.1126/science.7792600. [DOI] [PubMed] [Google Scholar]
  16. Seemanová E., Passarge E., Beneskova D., Houstek J., Kasal P., Sevcíková M. Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet. 1985 Apr;20(4):639–648. doi: 10.1002/ajmg.1320200410. [DOI] [PubMed] [Google Scholar]
  17. Stoppa-Lyonnet D., Girault D., LeDeist F., Aurias A. Unusual T cell clones in a patient with Nijmegen breakage syndrome. J Med Genet. 1992 Feb;29(2):136–137. doi: 10.1136/jmg.29.2.136. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Stumm M., Gatti R. A., Reis A., Udar N., Chrzanowska K., Seemanova E., Sperling K., Wegner R. D. The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. Am J Hum Genet. 1995 Oct;57(4):960–962. [PMC free article] [PubMed] [Google Scholar]
  19. Taalman R. D., Hustinx T. W., Weemaes C. M., Seemanová E., Schmidt A., Passarge E., Scheres J. M. Further delineation of the Nijmegen breakage syndrome. Am J Med Genet. 1989 Mar;32(3):425–431. doi: 10.1002/ajmg.1320320332. [DOI] [PubMed] [Google Scholar]
  20. Van de Kaa C. A., Weemaes C. M., Wesseling P., Schaafsma H. E., Haraldsson A., De Weger R. A. Postmortem findings in the Nijmegen breakage syndrome. Pediatr Pathol. 1994 Sep-Oct;14(5):787–796. doi: 10.3109/15513819409037676. [DOI] [PubMed] [Google Scholar]
  21. Weemaes C. M., Hustinx T. W., Scheres J. M., van Munster P. J., Bakkeren J. A., Taalman R. D. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand. 1981 Jul;70(4):557–564. doi: 10.1111/j.1651-2227.1981.tb05740.x. [DOI] [PubMed] [Google Scholar]
  22. Weemaes C. M., Smeets D. F., van der Burgt C. J. Nijmegen Breakage syndrome: a progress report. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S185–S188. [PubMed] [Google Scholar]
  23. Wegner R. D., Metzger M., Hanefeld F., Jaspers N. G., Baan C., Magdorf K., Kunze J., Sperling K. A new chromosomal instability disorder confirmed by complementation studies. Clin Genet. 1988 Jan;33(1):20–32. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES