May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
From Phenotype to Genotype in Moebius Syndrome: Institution of a Dna Bank for Collaborative Genetic Studies
Author Affiliations & Notes
  • R. Leaci
    Head and Neck,
    University of Parma, Parma, Italy
  • M. Galetti
    Department of Sperimental Medicine, Molecular Pathology and Immunology Section,
    University of Parma, Parma, Italy
  • P. Petronini
    Department of Sperimental Medicine, Molecular Pathology and Immunology Section,
    University of Parma, Parma, Italy
  • S. Gomarasca
    Head and Neck,
    University of Parma, Parma, Italy
  • A. Carta
    Head and Neck,
    University of Parma, Parma, Italy
  • Footnotes
    Commercial Relationships  R. Leaci, None; M. Galetti, None; P. Petronini, None; S. Gomarasca, None; A. Carta, None.
  • Footnotes
    Support  Grant from the Associazione Italiana Sindrome di Moebius Onlus (www.moebius–italia.it).
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 2945. doi:
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      R. Leaci, M. Galetti, P. Petronini, S. Gomarasca, A. Carta; From Phenotype to Genotype in Moebius Syndrome: Institution of a Dna Bank for Collaborative Genetic Studies . Invest. Ophthalmol. Vis. Sci. 2005;46(13):2945.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To create a DNA bank from patients affected by Moebius Syndrome (MBS) referred to our Department from the Italian Association of Moebius Syndrome (www.moebius–italia.it). Methods: To date, a total of 28 patients have been followed in our Department. The 10 most severe cases have been invited, after informed consent, to partecipate in the creation of a DNA bank for MBS. Peripheral blood mononuclear cells (PBM) have been obtained from probands and their relatives (mother and father) by centrifugation of heparinized venous blood over sodium diatriazoate/Ficoll gradients. Afterwards PBM were separated into T cell–enriched and B cell–enriched populations by incubating the mononuclear cell suspension with phytohemagglutinin and cyclosporine A respectively. The resultant population of T cells were incubated with Il–2, while B cells were immortalized using Epstein Barr Virus (EBV). T– and B– cells were then frozen in liquid nitrogen. Time from initiation of a B cell culture to cryoconservation was 8 weeks; this period was necessary for banking of large numbers of lymphoblastic cells. Results: Immortalization by EBV was effective in producing a long–term growth of human B–lymphocytes. The overall success rate in establishing permanent cell lines was 70%. Actually, a permanent line of immortalized cells is available for DNA testing in MBS. Conclusions: To our knowledge, this is the first DNA bank created in a large series of cases with severe phenotypical characterization. The present work is a call for future collaboration with laboratories interested in testing candidate genes which may play a key role in the pathogenesis of MBS.

Keywords: strabismus: etiology • genetics • neuro-ophthalmology: diagnosis 
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