Nijmegen Breakage Syndrome – NBS: а Rare Clinical Case in Kazakhstan

Elena F. Kovzel 1, Bayan Gani 1 * , Adil A. Zhamankulov 2, Assel K. Baigojayeva 1
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1 Clinical Immunology and Allergology Program, Corporate Foundation "University Medical Center", Astana, Kazakhstan
2 Department of Pediatrics, Corporate Foundation "University Medical Center", Astana, Kazakhstan
* Corresponding Author
J CLIN MED KAZ, Volume 21, Issue 2, pp. 95-98. https://doi.org/10.23950/jcmk/14498
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Author Contributions: Conceptualization, B.G., AZh, and  A.B.; methodology, E.F., A.Zh and B.G.; validation, A.B. and B.G.; formal analysis, A.Zh.; investigation, A.Zh. and A.B.; resources, E.F. and B.G.; data curation, A.B., A.Zh.; writing – original draft preparation, A.Zh., A.B.; writing – review and editing, B.G., A.B. and A.Zh.; visualization, E,F.; supervision, E.F. All authors have read and agreed to the published version of the manuscript.

Patient informed consent: This clinical case is presented after parental consent.

ABSTRACT

Nijmegen syndrome is a primary immunodeficiency characterized by chromosomal instability, microcephaly, physical retardation, specific disorders of the facial skeleton, as well as a predisposition to cancer. Most patients of Slavic origin have a homozygous mutation with the del5 founder effect in the NBS gene. The frequency of occurrence is 1:100000population. The highest frequency of carriage in the population of the del5 mutation in the NBS gene in the Czech Republic is 1:154, in Ukraine – 1:182, in Poland – 1:190. This pathology is presented in our clinical practice for the first time, and therefore we would like to provide data for a wide review
Keywords: NBS, autosomal recessive disorder, primary immune deficiency, microcephaly

CITATION

Kovzel EF, Gani B, Zhamankulov AA, Baigojayeva AK. Nijmegen Breakage Syndrome – NBS: а Rare Clinical Case in Kazakhstan. J CLIN MED KAZ. 2024;21(2):95-8. https://doi.org/10.23950/jcmk/14498

REFERENCES

  • Albert M, Gennery A, Greil J, et al. Successful SCT for Nijmegen breakage syndrome. Bone Marrow Transplant. 2010; 45:622-626. https://doi.org/10.1038/bmt.2009.207
  • Becker E, Meyer V, Madaoui H, Guerois R. Detection of a tandemBRCTinNbs1 and Xrs2 with functional implications in the DNAdamage response. Bioinformatics. 2006;22:1289–1292. https://doi: 10.1093/bioinformatics/btl075.
  • Varon R. et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998; 93(3):467-476. https://doi.org/10.1016/S0092-8674(00)81174-5
  • Digweed M., Sperling K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA rep. 2004;3(8-9):1207-1217. https://doi.org/10.1016/j.dnarep.2004.03.004
  • Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, et al. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int.J.Cancer. 2008;122(4): 802-806. https://doi.org/10.1002/ijc.23168
  • Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, et al. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012; 7(13):1-19. https://doi.org/10.1186/1750-1172-7-13
  • Seidemann K, Henze G, Beck JD, Sauerbrey A, Kühl J, Mann G. Non- Hodgkin lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials. Ann Oncol 2000; 11(Suppl 1):141-145. https://doi.org/10.1093/annonc/11.suppl_1.S141
  • Yoo J, Wolgamot G, Torgerson TR, Sidbury R. Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. Arch Dermatol. 2008; 144:418-419. https://doi:10.1001/archderm.144.3.418
  • Varon R, Müuer A, Wagner K, Zieler H, Sodia S, Rauter L, et al. Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. Am J Med Genet A. 2007;143A:92-94. https://doi.org/10.1002/ajmg.a.31540
  • Tekin M, Akcayoz D, Ucar C, Gulen H, Akar N. 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population. Hum Biol. 2005; 77:393-397. https://doi.org/10.1353/hub.2005.0056
  • Kondratenko I, Paschenko O, Plyakov A, Bologov A. Nijmegen breakage syndrome. Adv Exp Med Biol. 2007; 601:61-67. https://doi.org/10.1007/978-0-387-72005-0_6
  • Seeman P, Gebertová K, Paděrová K, Sperling K, Seemanová E. Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly. Pediatr Neurol. 2004;30:195-200. https://doi.org/10.1016/j.pediatrneurol.2003.07.003
  • Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J. Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome. Clin Genet. 2000; 57:384-387. https://doi.org/10.1034/j.1399-0004.2000.570509.x
  • Muschke P, Gola H, Varon R, Röpke A, Zumkeller W, Wieacker P, et al. Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome. Prenat Diagn. 2004; 24:111-113. https://doi.org/10.1002/pd.803
  • Erdös M, Tóth B, Veres I, Kiss M, Remenyik E, Maródi L. Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis. Pediatr Infect Dis J. 2010; 30(4):359-360. https://doi.org/10.1097/INF.0b013e3181faa941
  • Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, et al. A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet. 2001;38:113-117. https://doi.org/10.1136/jmg.38.2.113
  • Marcelain K, Aracena M, Br C, Navarette CL, Moreno R, Santos M, et al. Clinical, cytogenetic and molecular characterisation of a new case of Nijmegen breakage syndrome in Chile. Rev Med Chil. 2004; 132:211-218. https://doi.org/10.4067/s0034-98872004000200011
  • Vogel CA, Stratman EJ, Reck SJ, Lund JJ. Chronic necrotizing granuloma in a child with Nijmegen breakage syndrome. Pediatr Dermatol. 2010; 27:285-289. https://doi.org/10.1111/j.1525-1470.2010
  • Wolska-Kusnierz B, Pastorczak A, Fendler W, Wakulinska A, Dembowska-Baginska B, Heropolitanska- Pliszka E,et al. Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome. Clin Cancer Res. 2021; 27(2): 575–584. https://doi.org/10.1158/1078- 0432.CCR-20-2574