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Moreno OM, Sánchez AI, Herreño A, et al. Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. Mol Syndromol. 2020;11(5):271-283doi: 10.1159/000510910.
Moreno, O. M., Sánchez, A. I., Herreño, A., Giraldo, G., Suárez, F., Prieto, J. C., Clavijo, A. S., Olaya, M., Vargas, Y., Benítez, J., Surallés, J., & Rojas, A. (2020). Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. Molecular syndromology, 11(5), 271-283. https://doi.org/10.1159/000510910
Moreno, Olga M, et al. "Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association." Molecular syndromology vol. 11,5 (2020): 271-283. doi: https://doi.org/10.1159/000510910
Moreno OM, Sánchez AI, Herreño A, Giraldo G, Suárez F, Prieto JC, Clavijo AS, Olaya M, Vargas Y, Benítez J, Surallés J, Rojas A. Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. Mol Syndromol. 2020 Dec;11(5):271-283. doi: 10.1159/000510910. Epub 2020 Nov 11. PMID: 33505230; PMCID: PMC7802448.
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Mol Syndromol. 2020 Dec;11(5):271-283. doi: 10.1159/000510910. Epub 2020 Nov 11.

Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.

Molecular syndromology

Olga M Moreno, Ana I Sánchez, Angélica Herreño, Gustavo Giraldo, Fernando Suárez, Juan Carlos Prieto, Ana Shaia Clavijo, Mercedes Olaya, Yaris Vargas, Javier Benítez, Jordi Surallés, Adriana Rojas

Affiliations

  1. Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.
  2. Departamento Materno Infantil, Facultad de Ciencias de la Salud, Pontificia Universidad Javeriana, Cali, Colombia.
  3. Centro Médico Imbanaco de Cali, Cali, Colombia.
  4. Unidad de Genética Medica, Hospital Universitario de San Ignacio, Bogotá, Colombia.
  5. Servicio de Patología, Hospital Universitario de San Ignacio, Bogotá, Colombia.
  6. Servicio de Pediatría, Neonatología, Hospital Universitario de San Ignacio, Bogotá, Colombia.
  7. CNIO: Centro Nacional de Investigaciones Oncológicas, Madrid, Spain.
  8. Departamento de Genética y Microbiología, Universidad Autónoma de Barcelona, Barcelona, Spain.

PMID: 33505230 PMCID: PMC7802448 DOI: 10.1159/000510910

Abstract

VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.

Copyright © 2020 by S. Karger AG, Basel.

Keywords: Array-CGH; Chromosomal microalterations; Congenital malformations; Copy-number variants; Fanconi anemia; VACTERL association

Conflict of interest statement

The authors have no conflicts of interest to declare.

References

  1. J Cell Sci. 1994 Jan;107 ( Pt 1):9-16 - PubMed
  2. Am J Med Genet A. 2015 Nov;167A(11):2594-8 - PubMed
  3. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):440-446 - PubMed
  4. Birth Defects Res. 2017 Jul 17;109(13):1063-1069 - PubMed
  5. Am J Med Genet A. 2018 Sep;176(9):1830-1837 - PubMed
  6. Clin Sci (Lond). 2009 May;116(9):697-712 - PubMed
  7. Mol Cell. 2001 Oct;8(4):781-94 - PubMed
  8. Protein Sci. 2020 Jun;29(6):1440-1458 - PubMed
  9. J Med Genet. 2006 Sep;43(9):750-4 - PubMed
  10. Cell. 2019 Jan 10;176(1-2):11-42 - PubMed
  11. Am J Med Genet A. 2016 Feb;170A(2):386-391 - PubMed
  12. J Med Genet. 2017 Sep;54(9):633-639 - PubMed
  13. Eur J Med Genet. 2006 Jan-Feb;49(1):71-7 - PubMed
  14. Physiol Genomics. 2018 Nov 1;50(11):929-939 - PubMed
  15. Biochem J. 2016 Oct 1;473(19):2911-35 - PubMed
  16. J Biol Chem. 2003 Jul 25;278(30):27556-63 - PubMed
  17. Am J Med Genet. 1992 Aug 1;43(6):1032-4 - PubMed
  18. Hum Mutat. 2015 Dec;36(12):1150-4 - PubMed
  19. PLoS One. 2010 Feb 23;5(2):e9367 - PubMed
  20. Cytogenet Genome Res. 2019;158(3):121-125 - PubMed
  21. PLoS One. 2014 Jan 09;9(1):e85313 - PubMed
  22. Eur J Med Genet. 2010 Jan-Feb;53(1):6-13 - PubMed
  23. Am J Med Genet A. 2010 Sep;152A(9):2236-44 - PubMed
  24. Mol Syndromol. 2013 Feb;4(1-2):63-73 - PubMed
  25. Biochem Biophys Res Commun. 1998 Jan 26;242(3):613-20 - PubMed
  26. Nucleic Acids Res. 1988 Feb 11;16(3):1215 - PubMed
  27. Am J Hum Genet. 2009 Nov;85(5):628-42 - PubMed
  28. Genetics. 2018 Aug;209(4):1099-1119 - PubMed
  29. Neurosci Lett. 2008 Jun 13;438(1):34-7 - PubMed
  30. Mol Syndromol. 2013 Feb;4(1-2):87-93 - PubMed
  31. Development. 2018 Feb 26;145(4): - PubMed
  32. Mov Disord. 2018 May;33(5):730-741 - PubMed
  33. Eur J Med Genet. 2014 Jan;57(1):40-3 - PubMed
  34. J Pediatr. 1973 Jan;82(1):104-7 - PubMed
  35. Genes Cells. 2014 Feb;19(2):153-60 - PubMed
  36. Neurol Genet. 2016 Sep 08;2(5):e105 - PubMed
  37. Genesis. 2007 Jan;45(1):32-7 - PubMed
  38. Am J Med Genet A. 2013 Feb;161A(2):352-9 - PubMed
  39. PLoS One. 2019 Mar 21;14(3):e0200229 - PubMed
  40. Front Pediatr. 2018 Jun 15;6:175 - PubMed
  41. Cell Rep. 2018 Jul 17;24(3):732-743 - PubMed
  42. Nat Cell Biol. 2010 Sep;12(9):823-30 - PubMed
  43. Mol Syndromol. 2013 Feb;4(1-2):7-15 - PubMed
  44. Nat Commun. 2020 Feb 25;11(1):1031 - PubMed
  45. Nat Cell Biol. 2012 Apr 08;14(5):488-501 - PubMed
  46. J Cell Sci. 2002 Dec 1;115(Pt 23):4399-411 - PubMed
  47. Orphanet J Rare Dis. 2011 Aug 16;6:56 - PubMed
  48. Am J Med Genet A. 2013 Dec;161A(12):3035-41 - PubMed
  49. Am J Hum Genet. 2009 Jun;84(6):780-91 - PubMed
  50. Cell Prolif. 2018 Jun;51(3):e12438 - PubMed
  51. Autophagy. 2018;14(11):1870-1885 - PubMed
  52. J Neurol. 2019 Feb;266(2):353-360 - PubMed
  53. J Pediatr. 2014 Mar;164(3):451-7.e1 - PubMed
  54. J Biol Chem. 2009 Sep 25;284(39):26286-96 - PubMed
  55. Science. 2010 Jun 4;328(5983):1281-4 - PubMed
  56. Development. 2017 Jul 15;144(14):2548-2559 - PubMed
  57. J Invest Dermatol. 2010 Jan;130(1):124-34 - PubMed
  58. Kidney Int. 2014 Jun;85(6):1310-7 - PubMed
  59. Blood. 1988 Jul;72(1):366-7 - PubMed
  60. Cancer Cell. 2015 May 11;27(5):712-27 - PubMed
  61. Eur J Hum Genet. 2013 Dec;21(12):1377-82 - PubMed
  62. Am J Med Genet. 1996 Jun 28;63(4):529-36 - PubMed
  63. J Biol Chem. 2011 Jul 8;286(27):24336-49 - PubMed
  64. PLoS One. 2018 Mar 12;13(3):e0194321 - PubMed
  65. J Assist Reprod Genet. 2019 Aug;36(8):1549-1554 - PubMed
  66. J Cell Mol Med. 2016 Mar;20(3):518-25 - PubMed
  67. Am J Med Genet A. 2015 Dec;167A(12):3038-45 - PubMed
  68. J Biol Chem. 2011 Mar 25;286(12):10367-77 - PubMed
  69. Pediatr Surg Int. 2012 Jul;28(7):725-9 - PubMed
  70. Am J Med Genet. 2001 Jun 1;101(1):26-32 - PubMed
  71. Clin Genet. 2001 May;59(5):306-15 - PubMed
  72. Pediatr Nephrol. 2016 Nov;31(11):2025-33 - PubMed
  73. Eur J Med Genet. 2011 Jan-Feb;54(1):9-13 - PubMed
  74. Hum Genet. 2010 Jun;127(6):731-3 - PubMed
  75. Fetal Pediatr Pathol. 2016;35(2):133-41 - PubMed
  76. Neuroscience. 2019 Nov 10;420:32-40 - PubMed
  77. J Pediatr. 1974 Sep;85(3):345-9 - PubMed
  78. Blood. 2020 Apr 30;135(18):1588-1602 - PubMed
  79. Aging (Albany NY). 2016 May;8(5):977-85 - PubMed
  80. Blood Rev. 2019 Sep;37:100589 - PubMed
  81. Clin Case Rep. 2017 Feb 11;5(3):351-356 - PubMed
  82. J Med Genet. 2016 Jul;53(7):431-7 - PubMed
  83. Int J Mol Sci. 2015 Feb 13;16(2):4068-82 - PubMed

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