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The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability Cover

The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability

Revista Romana de Medicina de Laborator
Volume 26 (2018): Issue 4 (October 2018)
By: Alina Bogliş,  Florin Tripon and  Claudia Bănescu  
Open Access
|Oct 2018

References

  1. 1. Miller K, Twigg S, McGowan S, Phipps J, Fenwick A, Johnson D, et al. Diagnostic value of exome and whole genome sequencing in craniosynostosis. J Med Genet. 2017 Apr;54(4):260-8. DOI: 10.1136/jmedgenet-2016-10421510.1136/jmedgenet-2016-104215536606927884935
    Search in Google ScholarBack to article
  2. 2. Negura L, Negura A. Sanger sequencing of MMR genes in a one-plate system. Rev Romana Med Lab. 2018 Apr;26(2):153-63. DOI: 10.2478/rrlm-2018-000810.2478/rrlm-2018-0008
    Open DOISearch in Google ScholarBack to article
  3. 3. Addissie, Yarnell C, Kruszk P, Muenke M. Muenke syndrome. Middle East J Med Genet. 2015 Jan;4:1-6. DOI: 10.1097/01.MXE.0000456629.07295.8e10.1097/01.MXE.0000456629.07295.8e
    Open DOISearch in Google ScholarBack to article
  4. 4. Bellus G, Gaudenz K, Zackai E, Clarke L, Szabo J, Francomano C, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet. 1996 Oct;14(2):174–6. DOI: 10.1038/ng1096-17410.1038/ng1096-1748841188
    Open DOISearch in Google ScholarBack to article
  5. 5. Muenke M, Gripp K, McDonald-McGinn D, Gaudenz K, Whitaker LA L, Bartlett S, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet. 1997 Mar;60(3):555–64.
    Search in Google ScholarBack to article
  6. 6. Boulet S, Rasmussen S, Honein M. A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003. AmJ Med Genet. 2008 Apr;146A(8):984–91. DOI: 10.1002/ajmg.a.3220810.1002/ajmg.a.3220818344207
    Search in Google ScholarBack to article
  7. 7. Kruszka P, Addissie Y, Yarnell C, Hadley D, Guillen Sacoto M, Platte P, et al. Muenke syndrome: An international multicenter natural history study. Am J Med Genet A. 2016 Apr;170A(4):918–29. DOI: 10.1002/ajmg.a.3752810.1002/ajmg.a.3752826740388
    Open DOISearch in Google ScholarBack to article
  8. 8. Heuzé Y, Holmes G, Peter I, Richtsmeier J, Jabs E. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014 Sep;2(3):135-45. DOI: 10.1007/s40142-014-0042-x10.1007/s40142-014-0042-x448914726146596
    Search in Google ScholarBack to article
  9. 9. Yu J, Park D, Yoon S. A Korean Family with the Muenke Syndrome. J Korean Med Sci. 2010 Jul;25(7):1086-9. DOI: 10.3346/jkms.2010.25.7.108610.3346/jkms.2010.25.7.1086289089020592905
    Open DOISearch in Google ScholarBack to article
  10. 10. Yoon A, Pham B, Dipple K. Genetic Screening in Patients with Craniofacial Malformations. J Pediatr Genet. 2016 Dec;5(4):220-4. DOI: 10.1055/s-0036-159242310.1055/s-0036-1592423512389427895974
    Search in Google ScholarBack to article
  11. 11. Wilkie A, Johnson D, Wall S. Clinical Genetics of Craniosynostosis. Curr Opin Pediatr. 2017 Dec;29(6):622–8. DOI: 10.1097/MOP.000000000000054210.1097/MOP.0000000000000542568124928914635
    Search in Google ScholarBack to article
  12. 12. Lee E, Le T, Zhu Y, Elakis G, Turner A, Venselaar H, et al. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genet Med. 2017. DOI: 10.1038/gim.2017.21410.1038/gim.2017.21429215649
    Open DOISearch in Google ScholarBack to article
  13. 13. Twigg S, Wilkie A. A Genetic-Pathophysiological Framework for Craniosynostosis. Am J Hum Genet. 2015 Sep;97(3):359-77. DOI: 10.1016/j.ajhg.2015.07.00610.1016/j.ajhg.2015.07.006456494126340332
    Open DOISearch in Google ScholarBack to article
  14. 14. Nah H, Koyama E, Agochukwu N, Bart S, Muenke M. Phenotype profile of a genetic mouse model for Muenke syndrome. Childs Nerv Syst. 2012 Sep;28(9):1483-93. DOI: 10.1007/s00381-012-1778-910.1007/s00381-012-1778-9413198222872265
    Open DOISearch in Google ScholarBack to article
  15. 15. Doherty E, Lacbawan F, Hadley D, Brewer C, Zalewski C, Kim H, et al. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007 Dec;143A(24):3204-15. DOI: 10.1002/ajmg.a.3207810.1002/ajmg.a.3207818000976
    Open DOISearch in Google ScholarBack to article
  16. 16. Escobar L, Hiett A, Marnocha A. Significant phenotypic variability of Muenke syndrome in identical twins. Am J Med Genet A. 2009 Jun;149A(6):1273-6. DOI: 10.1002/ajmg.a.3284110.1002/ajmg.a.3284119449410
    Open DOISearch in Google ScholarBack to article
  17. 17. Solomon B, Muenke M. Muenke Syndrome. In Muenke M, Kress W, Collmann H, Solomon B, editors. Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment. Monogr Hum Genet. Basel: Karger; 2011:89-97. DOI: 10.1159/00031840710.1159/000318407
    Open DOISearch in Google ScholarBack to article
  18. 18. Hamilton A, Tétreault M, Dyment D, Zou R, Kernohan K, Geraghty M, et al. Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. Mol Genet Genomic Med. 2016 May;4(5):504-12. DOI: 10.1002/mgg3.22310.1002/mgg3.223502393527652278
    Open DOISearch in Google ScholarBack to article
  19. 19. Hehr U. Molecular Genetic Testing of Patients with Craniosynostosis. In Muenke M, Kress W, Collmann H, Solomon B, editors. Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment. Monogr Hum Genet. Basel: Karger; 2011:177–83. DOI: 10.1159/00031842810.1159/000318428
    Open DOISearch in Google ScholarBack to article
  20. 20. Phipps J, Skirton H. A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners. J Genet Couns. 2017 Oct;26(5):1130-42. DOI: 10.1007/s10897-017-0094-710.1007/s10897-017-0094-728332077
    Open DOISearch in Google ScholarBack to article
  21. 21. Katsanis S, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet. 2013 Jun;14(6):415-26. DOI: 10.1038/nrg349310.1038/nrg3493446136423681062
    Open DOISearch in Google ScholarBack to article
  22. 22. Sireteanu A, Popescu R, Braha E, Bujoran C, Butnariu L, Caba L, et al. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability. Rev Romana Med Lab. 2014 Jun;22(2):157-64. DOI: 10.2478/rrlm-2014-001910.2478/rrlm-2014-0019
    Open DOISearch in Google ScholarBack to article
DOI: https://doi.org/10.2478/rrlm-2018-0033 | Journal eISSN: 2284-5623 | Journal ISSN: 1841-6624
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Language: English
Page range: 471 - 477
Submitted on: Jul 29, 2018
|
Accepted on: Sep 18, 2018
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Published on: Oct 29, 2018
Published by: Romanian Association of Laboratory Medicine
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
craniosynostosis,
FGFR3,
Pro250Arg mutation,
MLPA analysis,
Sanger sequencing
Related subjects:
Life sciences,
Molecular biology,
Biochemistry,
Human biology,
Microbiology and virology

© 2018 Alina Bogliş, Florin Tripon, Claudia Bănescu, published by Romanian Association of Laboratory Medicine
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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