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Mutation in ROBO 3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review

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Listed:
  • Elena Pinero-Pinto

    (Department of Physiotherapy, University of Seville, 41009 Seville, Spain)

  • Verónica Pérez-Cabezas

    (Department of Nursing and Physiotherapy, Spain INDESS (Instituto Universitario para el Desarrollo Social Sostenible), University of Cadiz, 11009 Cadiz, Spain)

  • Cristina Tous-Rivera

    (Nodo Biobanco Hospital Universitario Virgen del Rocío (Biobanco del Sistema Sanitario Público de Andalucía), 41013 Seville, Spain)

  • José-María Sánchez-González

    (Department of Physics of Condensed Matter, Optics Area, University of Seville, 41012 Seville, Spain)

  • Carmen Ruiz-Molinero

    (Department of Nursing and Physiotherapy, Spain INDESS (Instituto Universitario para el Desarrollo Social Sostenible), University of Cadiz, 11009 Cadiz, Spain)

  • José-Jesús Jiménez-Rejano

    (Department of Physiotherapy, University of Seville, 41009 Seville, Spain)

  • María-Luisa Benítez-Lugo

    (Department of Physiotherapy, University of Seville, 41009 Seville, Spain)

  • María Carmen Sánchez-González

    (Department of Physics of Condensed Matter, Optics Area, University of Seville, 41012 Seville, Spain)

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout ( ROBO 3) gene located on chromosome 11q23–25 are responsible for the development of horizontal gaze palsy and progressive scoliosis. However, some studies redefined the locus responsible for this pathology to a 9-cM region. This study carried out a systematic review in which 25 documents were analyzed, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards. The search was made in the following electronic databases from January 1995 to October 2019: PubMed, Scopus, Web of Science, PEDRO, SPORT Discus, and CINAHL. HGPPS requires a multidisciplinary diagnostic approach, in which magnetic resonance imaging might be the first technique to suggest the diagnosis, which should be verified by an analysis of the ROBO 3 gene. This is important to allow for adequate ocular follow up, apply supportive therapies to prevent the rapid progression of scoliosis, and lead to appropriate genetic counseling.

Suggested Citation

  • Elena Pinero-Pinto & Verónica Pérez-Cabezas & Cristina Tous-Rivera & José-María Sánchez-González & Carmen Ruiz-Molinero & José-Jesús Jiménez-Rejano & María-Luisa Benítez-Lugo & María Carmen Sánchez-Go, 2020. "Mutation in ROBO 3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review," IJERPH, MDPI, vol. 17(12), pages 1-15, June.
    • Handle: RePEc:gam:jijerp:v:17:y:2020:i:12:p:4467-:d:374560
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    References listed on IDEAS

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    1. David Moher & Alessandro Liberati & Jennifer Tetzlaff & Douglas G Altman & The PRISMA Group, 2009. "Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement," PLOS Medicine, Public Library of Science, vol. 6(7), pages 1-6, July.
    2. Alessandro Liberati & Douglas G Altman & Jennifer Tetzlaff & Cynthia Mulrow & Peter C Gøtzsche & John P A Ioannidis & Mike Clarke & P J Devereaux & Jos Kleijnen & David Moher, 2009. "The PRISMA Statement for Reporting Systematic Reviews and Meta-Analyses of Studies That Evaluate Health Care Interventions: Explanation and Elaboration," PLOS Medicine, Public Library of Science, vol. 6(7), pages 1-28, July.
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