Clinical Neurology and Neurosurgery
Volume 112, Issue 6 , Pages 457-458 , July 2010

Genetics of patent foramen ovale—NKX2-5 and beyond

  • Graeme C. Elliott

      Affiliations

    • Genetic Medicine, Faculty of Medical and Human Sciences and St Mary's Hospital, Academic Health Sciences Centre (MAHSC), Manchester NIHR Biomedical Research Centre, The University of Manchester, Manchester M13 9PT, UK
    • ,
  • Muralidharan Sargurupremraj

      Affiliations

    • Genetic Medicine, Faculty of Medical and Human Sciences and St Mary's Hospital, Academic Health Sciences Centre (MAHSC), Manchester NIHR Biomedical Research Centre, The University of Manchester, Manchester M13 9PT, UK
    • ,
  • Uma Velupandian

      Affiliations

    • Academic Surgery Unit, Education and Research Centre, University Hospital of South Manchester, Manchester M22 9LT, UK
    • ,
  • Rockesh Gurtu

      Affiliations

    • Academic Surgery Unit, Education and Research Centre, University Hospital of South Manchester, Manchester M22 9LT, UK
    • ,
  • Dorothy Trump

      Affiliations

    • Genetic Medicine, Faculty of Medical and Human Sciences and St Mary's Hospital, Academic Health Sciences Centre (MAHSC), Manchester NIHR Biomedical Research Centre, The University of Manchester, Manchester M13 9PT, UK
    • ,
  • William Newman

      Affiliations

    • Genetic Medicine, Faculty of Medical and Human Sciences and St Mary's Hospital, Academic Health Sciences Centre (MAHSC), Manchester NIHR Biomedical Research Centre, The University of Manchester, Manchester M13 9PT, UK
    • ,
  • Tao Wang

      Affiliations

    • Genetic Medicine, Faculty of Medical and Human Sciences and St Mary's Hospital, Academic Health Sciences Centre (MAHSC), Manchester NIHR Biomedical Research Centre, The University of Manchester, Manchester M13 9PT, UK
    • Corresponding Author InformationCorresponding author. AV Hill Building Room 1.014, Oxford Road, The University of Manchester, Manchester M13 9PT, UK. Tel.: +44 161 2915853.
    • ,
  • Charles McCollum

      Affiliations

    • Academic Surgery Unit, Education and Research Centre, University Hospital of South Manchester, Manchester M22 9LT, UK
    • Corresponding Author InformationCorresponding author. Academic Surgery Unit, Education and Research Centre, University Hospital of South Manchester, Manchester M22 9LT, UK. Tel.: +44 161 2751508.

Received 24 November 2009

References 

  1. Belvis R, Tizzano EF, Marti-Fabregas J, Leta RG, Baena M, Carreras F, et al. Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale. Clin Neurol Neurosurg. 2009;111:574–578
  2. Handke M, Harloff A, Olschewski M, Hetzel A, Geibel A. Patent foramen ovale and cryptogenic stroke in older patients. N Engl J Med. 2007;357:2262–2268
  3. Schwerzmann MM, Nedeltchev KM, Lagger FB, Mattle HPM, Windecker SM, Meier BM, et al. Prevalence and size of directly detected patent foramen ovale in migraine with aura. Neurology. 2005;65:1415–1418
  4. Kirk EP, Hyun C, Thomson PC, Lai D, Castro ML, Biben C, et al. Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse. Circ Res. 2006;98:651–658
  5. Wilmshurst PT, Pearson MJ, Nightingale S, Walsh KP, Morrison WL. Inheritance of persistent foramen ovale and atrial septal defects and the relation to familial migraine with aura. Heart. 2004;90:1315–1320
  6. Wright DD, Gibson KD, Rush JE, Barclay J, Razumovsky A, McCollum CN. High prevalence of right-to-left shunt in patients with symptomatic great saphenous incompetence and varicose veins. J. Vasc. Surg. 2010;51(1):104–107
  7. Ng MYM, Andrew T, Spector TD, Jeffery S. Linkage to the FOXC2 region of chromosome 16 for varicose veins in the otherwise healthy, unselected sibling pairs. J Med Genet. 2005;42:235–239
  8. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999;104:1567–1573
  9. Sarkozy A, Conti E, Neri C, D’Agostino R, Digilio MC, Esposito G, et al. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet. 2005;42:e16

PII: S0303-8467(10)00063-6

doi: 10.1016/j.clineuro.2010.03.005

Clinical Neurology and Neurosurgery
Volume 112, Issue 6 , Pages 457-458 , July 2010

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