Genetic Investigation and Clinical Aspects in a Romanian Treacher Collins Syndrome Family – A Case Report
References
- 1. Renju R, Varma BR, Kumar SJ, Kumaran P. Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. Contemp Clin Dent. 2014;5:532-534
- 2. Kasat V, Baldawa R. Treacher Collins syndrome - A case report and review of literature. J Clin Exp Dent. 2011;3:e395-399
- 3. Mohan RPS, Verma S, Agarwal N, Singh U. Treacher Collins syndrome: A case report. BMJ Case Rep. 2013;2013:bcr2013009341
- 4. Panta P, Yaga US, Mengji AK, Radhika B, Rao MS. Treacher Collins syndrome - Case report and review. Oral Health Dent Manag. 2017;6:955-957.
- 5. Katsanis SH, Jabs EW. Treacher Collins Syndrome, in: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 2004 [updated 2018], 1993-2019
- 6. Weiner AM, Scampoli NL, Calcaterra NB. Fishing the molecular bases of Treacher Collins syndrome. PLoS One. 2012;7:e29574
- 7. Dixon J, Trainor P, Dixon MJ. Treacher Collins syndrome. OrthodCraniofac Res. 2007;10:88-95
- 8. Kumar T, Puri G, Konidena A, Arora N. Treacher Collins syndrome: A case report and review of literature. J Indian Acad Oral Med Radiol. 2015;27:488-491
- 9. Conte C, D’Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet. 2011;12:125
- 10. Crauciuc GA, Tripon F, Bogliş A, Făgărăşan A, Bănescu C. Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect. Rev Romana Med Lab. 2018;26:461-470
- 11. Bogliş A, Tripon F, Bănescu C. The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability. Rev Romana Med Lab. 2018;26:471-477
- 12. Bănescu C. Do we really need genetic tests in current clinical practice? Rev Romana Med Lab. 2019;27:9-14
- 13. Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12:879-890
- 14. Schlump JU, Stein A, Hehr U, et al. Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. Eur J Pediatr. 2012; 171:1611-1618
- 15. Horiuchi K, Ariga T, Fujioka H, et al. Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. Am J Med Genet A. 2005; 134:363-367
- 16. Beygo J, K. Buiting, S. Seland, et al. First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome. Mol Syndromol. 2012;2:53–59
- 17. Yan Z, Lu Y, Wang Y, et al. Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. Exp Ther Med. 2018;16:2645–2650
- 18. Caluseriu O, Lowry BR, McLeod R, et al. The Hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. Am. J. Med. Genet. 2013;161A:2855-2859
- 19. Vincent M, Genevieve D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet. Med. 2016;18:49-56
- 20. Vincent M, Collet C, Verloes A, et al. Large deletions encompassing the TCOF1and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. Eur J Hum Genet. 2014;22:52-56
- 21. Ulusal S, Gürkan H, Vatansever U, Kürkçü K, Tozkir H, Acunaş B. A case of treachercollins syndrome. Balkan J Med Genet. 2013;16:77–80
Language: English
Page range: 157 - 160
Submitted on: Aug 16, 2019
Accepted on: Nov 20, 2019
Published on: Dec 31, 2019
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
Related subjects:
© 2019 Mădălina Anciuc, Florin Tripon, Carmen Duicu, Carmen Gliga, Claudia Bănescu, published by University of Medicine, Pharmacy, Science and Technology of Targu Mures
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.