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Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders Cover

Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders

Open Access
|Dec 2025

References

  1. van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, et al. Ataxia-telangiectasia: recommendations for multidisciplinary treatment. Dev Med Child Neurol. 2017;59(7):680–689. doi: 10.1111/dmcn.13424.
  2. Boder E, Sedgwick RP. Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. 1958;21(4): 526–554.
  3. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995;268(5218):1749–1753. doi: 10.1126/science.7792600.
  4. Pizzamiglio L, Focchi E, Antonucci F. ATM Protein Kinase: Old and New Implications in Neuronal Pathways and Brain Circuitry. Cells. 2020;9(9):1969. doi: 10.3390/cells9091969.
  5. Bundey S. Clinical and genetic features of ataxia-telangiectasia. Int J Radiat Biol. 1994;66(6 Suppl): S23–S29. doi: 10.1080/09553009414551821.
  6. Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LPT, et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med. 2011;13(9):841–847. doi: 10.1097/gim.0b013e318217477f.
  7. Kuhn K, Lederman HM, McGrath-Morrow SA. Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome. Expert Opin Investig Drugs. 2023;32(8):693–704. doi: 10.1080/13543784.2023.2249399.
  8. Nissenkorn A, Ben-Zeev B. Chapter 14 – Ataxia telangiectasia. Handb Clin Neurol. 2015;132:199–214. doi: 10.1016/B978-0-444-62702-5.00014-7.
  9. Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management. Expert Rev Clin Immunol. 2020;16(9):859–871. doi: 10.1080/1744666X.2020.1810570.
  10. Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11:159. doi: 10.1186/s13023-016-0543-7.
  11. Lavin MF, Shiloh Y. Ataxia-telangiectasia a multifaceted genetic disorder associated with defective signal transduction. Curr Opin Immunol. 1996;8(4):459–464. doi: 10.1016/S0952-7915(96)80030-6.
  12. Shiloh Y, Ziv Y. The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol. 2013;14(4):197–210. doi: 10.1038/nrm3546.
  13. Bensimon A, Schmidt A, Ziv Y, Elkon R, Wang SY, Chen DJ, et al. ATM-dependent and-independent dynamics of the nuclear phosphoproteome after DNA damage. Sci Signal. 2010;3(151):rs3. doi: 10.1126/scisignal.200103.
  14. Cremona CA, Behrens A. ATM signalling and cancer. Oncogene. 2013;33(26):3351–3360. doi: 10.1038/onc.2013.275.
  15. Goodarzi AA, Noon AT, Deckbar D, Ziv Y, Shiloh Y, Löbrich M., et al. ATM Signaling Facilitates Repair of DNA Double-Strand Breaks Associated with Heterochromatin. Mol Cell. 2008;31(2):167–177. doi: 10.1016/j.molcel.2008.05.017.
  16. Lavin MF, Shiloh Y. The genetic defect in ataxia-telangiectasia. Ann Rev Immunol. 1997;15(1):177–202. doi: 10.1146/annurev.immunol.15.1.177.
  17. van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, et al. Ataxia-telangiectasia: Immunodeficiency and survival. Clin Immunol. 2017;178:45–55. doi: 10.1016/j.clim.2017.01.009.
  18. Watters DJ. Oxidative stress in ataxia telangiectasia. Redox Rep. 2003;8(1):23–29. doi: 10.1179/135100003125001206.
  19. Concannon P, Gatti RA. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat. 1999;10(2): 100–107. doi: 10.1002/(sici)1098-1004(1997)10:2%3C100::aid-humu2%3E3.0.co;2-o.
  20. Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, et al. Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. Am J Hum Genet. 1996;59(1):40–44. doi: 10.1086/301673.
  21. Jacquemin V, Rieunier G, Jacob S, Bellanger D, Dubois d‘Enghien C, Laugé A, et al. Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. Eur J Hum Genet. 2012;20(3):305–312. doi: 10.1038/ejhg.2011.196.
  22. Stankovic T, Kidd AMJ, Sutcliffe A, McGuire GM, Robinson P, Weber P, et al. 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. 1998;62(2):334–345. doi: 10.1086/301706.
  23. Rawat A, Tyagi R, Chaudhary H, Pandiarajan V, Jindal AK, Suri D, et al. Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India. Sci Rep. 2022;12(1):4036. doi: 10.1038/s41598-022-08019-0.
  24. Woods CG, Bundey SE, Taylor AMR. Unusual features in the inheritance of ataxia telangiectasia. Hum Genet. 1990;84(6): 555–562. doi: 10.1007/BF00210809.
  25. Bittles A. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001;60(2):89–98. doi: 10.1034/j.1399-0004.2001.600201.x.
  26. Bennett RL, Malleda NR, Byers PH, Steiner RD, Barr KM. Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision. J Genet Couns. 2021;30(5):1354–1357. doi: 10.1002/jgc4.1477.
  27. Fedorets Ye, Golubovska O, Pinsky L. Optimisation of treatment of chronic wounds in bullous epidermolysis and the influence of microflora: A literature review. Bull Med Biol Res. 2024;6(4): 64–75. doi:10.63341/bmbr/4.2024.64.
  28. Veenhuis S, van Os N, Weemaes C, Kamsteeg E-J, Willemsen M. Ataxia telangiectasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews. Seattle: University of Washington; 1999: p. 1–34. ISSN: 2372-0697.
  29. Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Nat Acad Sci. 2010;107(suppl_1):1779–1786. doi: 10.1073/pnas.0906079106.
  30. Cavalli-Sforza LL, Bodmer WF. The genetics of human populations. San Francisco: W.H. Freeman; 1981.
  31. Modell B, Darr A. Genetic counselling and customary consanguineous marriage. Nat Rev Genet. 2002;3(3):225–229. doi: 10.1038/nrg754.
  32. Sahama I, Sinclair K. Pannek K, Lavin M, Rose S. Radiological Imaging in Ataxia Telangiectasia: a Review. The Cerebellum. 2014;13(4):521–530. doi: 10.1007/s12311-014-0557-4.
  33. Demianenko I, Bakhmach A. Computer screening of peptidomimetics and small-molecule ligands of B-cell membrane proteins for therapy of Burkitt lymphoma. Bull Med Biol Res. 2023;5(4): 25–33. doi:10.61751/bmbr/4.2023.25.
  34. Gaillard F, Normal brain (MRI), Radiopaedia: https://doi.org/10.53347/rID-37605 Accessed: November 6, 2025.
  35. Wolters Kluwer, UpToDate clinical decision support resource: https://www.wolterskluwer.com/en/solutions/uptodate. Accessed: November 6, 2025.
DOI: https://doi.org/10.34763/jmotherandchild.20252901.d-25-00038 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Language: English
Page range: 234 - 250
Submitted on: Sep 23, 2025
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Accepted on: Nov 3, 2025
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Published on: Dec 24, 2025
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2025 Zhanyl Baitokova, Nursultan Erkinbek uulu, Ajgul Matkeeva, Maral Turdumatova, Askarbekova Zhyldyz, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.