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Tsipi M, Tzetis M, Kosma K, et al. Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases. Meta Gene. 2016;8:37-43doi: 10.1016/j.mgene.2016.02.002.
Tsipi, M., Tzetis, M., Kosma, K., Moschos, M., Braoudaki, M., Poulou, M., Kanavakis, E., & Kitsiou-Tzeli, S. (2016). Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases. Meta gene, 837-43. https://doi.org/10.1016/j.mgene.2016.02.002
Tsipi, Maria, et al. "Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases." Meta gene vol. 8 (2016): 37-43. doi: https://doi.org/10.1016/j.mgene.2016.02.002
Tsipi M, Tzetis M, Kosma K, Moschos M, Braoudaki M, Poulou M, Kanavakis E, Kitsiou-Tzeli S. Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases. Meta Gene. 2016 Feb 16;8:37-43. doi: 10.1016/j.mgene.2016.02.002. eCollection 2016 Jun. PMID: 27014590; PMCID: PMC4792891.
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Meta Gene. 2016 Feb 16;8:37-43. doi: 10.1016/j.mgene.2016.02.002. eCollection 2016 Jun.

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.

Meta gene

Maria Tsipi, Maria Tzetis, Konstantina Kosma, Marilita Moschos, Maria Braoudaki, Myrto Poulou, Emmanuel Kanavakis, Sofia Kitsiou-Tzeli

Affiliations

  1. Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  2. 1st Department of Ophthalmology, G. Gennimatas Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  3. Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Research Institute for the Study of Genetic and Malignant Disorders in Childhood, St. Sophias Children's Hospital, Athens, Greece.

PMID: 27014590 PMCID: PMC4792891 DOI: 10.1016/j.mgene.2016.02.002

Abstract

BACKGROUND: Retinal dystrophies are a clinically and genetically heterogeneous group of disorders which affect more than two million people worldwide. The present study focused on the role of the ABCA4 gene in the pathogenesis of hereditary retinal dystrophies (autosomal recessive Stargardt disease, autosomal recessive cone-rod dystrophy, and autosomal recessive retinitis pigmentosa) in patients of Greek origin.

MATERIALS AND METHODS: Our cohort included 26 unrelated patients and their first degree healthy relatives. The ABCA4 mutation screening involved Sanger sequencing of all exons and flanking regions. Evaluation of novel variants included sequencing of control samples, family segregation analysis and characterization by in silico prediction tools. Twenty five patients were also screened for copy number variations by array-comparative genomic hybridization.

RESULTS: Excluding known disease-causing mutations and polymorphisms, two novel variants were identified in coding and non-coding regions of ABCA4. Array-CGH analysis revealed two partial deletions of USH2A and MYO3A in two patients with nonsyndromic autosomal recessive retinitis pigmentosa.

CONCLUSIONS: The ABCA4 mutation spectrum in Greek patients differs from other populations. Bioinformatic tools, segregation analysis along with clinical data from the patients seemed to be crucial for the evaluation of genetic variants and particularly for the discrimination between causative and non-causative variants.

Keywords: ABCA4 mutations; Stargardt's disease; autosomal recessive cone-rod dystrophy; autosomal recessive retinitis pigmentosa

References

  1. Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):90-100 - PubMed
  2. Semin Ophthalmol. 2008 Jan-Feb;23(1):59-65 - PubMed
  3. Ophthalmology. 1994 Jul;101(7):1211-9 - PubMed
  4. Nat Genet. 1997 Jun;16(2):188-90 - PubMed
  5. Nat Genet. 1997 Nov;17(3):268-9 - PubMed
  6. Am J Hum Genet. 2002 Dec;71(6):1480-2 - PubMed
  7. Hum Mol Genet. 2014 Dec 20;23(25):6797-806 - PubMed
  8. J Med Genet. 2010 Jul;47(7):499-506 - PubMed
  9. PLoS One. 2014 Apr 24;9(4):e95528 - PubMed
  10. Nat Genet. 1997 Sep;17(1):15-6 - PubMed
  11. Hum Genet. 2014 Oct;133(10):1255-71 - PubMed
  12. Eur J Hum Genet. 2013 Oct;21(10):1173-6 - PubMed
  13. Mol Genet Genomic Med. 2014 Sep;2(5):393-401 - PubMed
  14. J Med Genet. 2012 Jan;49(1):27-36 - PubMed
  15. Gene. 1998 Jul 17;215(1):111-22 - PubMed
  16. Mol Vis. 2011;17:1537-52 - PubMed
  17. Science. 1997 Sep 19;277(5333):1805-7 - PubMed
  18. Orphanet J Rare Dis. 2013 Aug 08;8:122 - PubMed
  19. Nat Genet. 1997 Feb;15(2):216-9 - PubMed
  20. Genomics. 1998 Feb 15;48(1):139-42 - PubMed
  21. Hum Mol Genet. 1998 Mar;7(3):355-62 - PubMed
  22. Invest Ophthalmol Vis Sci. 2000 Mar;41(3):892-7 - PubMed
  23. Eur J Hum Genet. 2004 Dec;12(12):1024-32 - PubMed
  24. Am J Hum Genet. 2000 Oct;67(4):800-13 - PubMed
  25. Clin Genet. 2013 Aug;84(2):132-41 - PubMed
  26. Nat Genet. 1998 Jan;18(1):11-2 - PubMed
  27. Eur J Hum Genet. 2015 Oct;23(10):1318-27 - PubMed
  28. Invest Ophthalmol Vis Sci. 2011 Oct 31;52(11):8479-87 - PubMed
  29. Mol Vis. 2006 Aug 11;12:902-8 - PubMed
  30. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2757-61 - PubMed
  31. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7518-23 - PubMed
  32. Proteins. 2004 Dec 1;57(4):811-9 - PubMed
  33. PLoS One. 2012;7(10):e46688 - PubMed
  34. Mol Vis. 2014 Apr 26;20:553-60 - PubMed
  35. Mol Vis. 2009 Dec 20;15:2841-7 - PubMed
  36. Ophthalmology. 2015 Feb;122(2):335-44 - PubMed
  37. Biochim Biophys Acta. 2009 Jul;1791(7):573-83 - PubMed
  38. Nucleic Acids Res. 2011 Sep 1;39(17):e118 - PubMed
  39. Nat Methods. 2010 Apr;7(4):248-9 - PubMed
  40. Genet Med. 2015 Apr;17(4):253-61 - PubMed
  41. Lancet. 2006 Nov 18;368(9549):1795-809 - PubMed
  42. Exp Eye Res. 2013 Apr;109:77-82 - PubMed
  43. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):3066-71 - PubMed
  44. Mol Biol Cell. 2003 Oct;14(10):4173-80 - PubMed
  45. JAMA Ophthalmol. 2015 Apr;133(4):427-36 - PubMed
  46. Exp Eye Res. 2016 Apr;145:93-9 - PubMed
  47. J Med Genet. 2007 Mar;44(3):e71 - PubMed
  48. Nucleic Acids Res. 2009 May;37(9):e67 - PubMed
  49. Mol Vis. 2014 Sep 25;20:1398-410 - PubMed
  50. Methods Mol Biol. 2000;132:365-86 - PubMed
  51. Nucleic Acids Res. 2012 Jul;40(Web Server issue):W452-7 - PubMed
  52. Hum Mutat. 2015 Jan;36(1):43-7 - PubMed
  53. J Cell Biol. 2010 Sep 20;190(6):953-63 - PubMed
  54. Hum Genet. 2016 Jan;135(1):9-19 - PubMed
  55. Hum Genet. 2001 Sep;109(3):326-38 - PubMed
  56. Hum Genet. 2005 Mar;116(4):292-9 - PubMed
  57. Mol Vis. 2014 Dec 23;20:1717-31 - PubMed
  58. Nat Protoc. 2009;4(7):1073-81 - PubMed
  59. Am J Hum Genet. 2000 Oct;67(4):960-6 - PubMed
  60. Invest Ophthalmol Vis Sci. 2012 Jul 03;53(8):4458-67 - PubMed
  61. Ophthalmology. 2013 Nov;120(11):2332-7 - PubMed
  62. Prog Retin Eye Res. 2010 Sep;29(5):335-75 - PubMed
  63. Eur J Hum Genet. 2015 Dec;23(12):1750 - PubMed
  64. Ophthalmology. 1999 Aug;106(8):1531-6 - PubMed
  65. Nat Genet. 1997 Mar;15(3):236-46 - PubMed
  66. Invest Ophthalmol Vis Sci. 2001 May;42(6):1179-89 - PubMed
  67. Arch Ophthalmol. 1994 Jun;112(6):752-4 - PubMed

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