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Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review
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 (ROBO3) gene located on chromosome 11q23–...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7345006/ https://www.ncbi.nlm.nih.gov/pubmed/32580277 http://dx.doi.org/10.3390/ijerph17124467 |
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author | Pinero-Pinto, Elena Pérez-Cabezas, Verónica Tous-Rivera, Cristina Sánchez-González, José-María Ruiz-Molinero, Carmen Jiménez-Rejano, José-Jesús Benítez-Lugo, María-Luisa Sánchez-González, María Carmen |
author_facet | Pinero-Pinto, Elena Pérez-Cabezas, Verónica Tous-Rivera, Cristina Sánchez-González, José-María Ruiz-Molinero, Carmen Jiménez-Rejano, José-Jesús Benítez-Lugo, María-Luisa Sánchez-González, María Carmen |
author_sort | Pinero-Pinto, Elena |
collection | PubMed |
description | 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 (ROBO3) 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 ROBO3 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. |
format | Online Article Text |
id | pubmed-7345006 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-73450062020-07-09 Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review Pinero-Pinto, Elena Pérez-Cabezas, Verónica Tous-Rivera, Cristina Sánchez-González, José-María Ruiz-Molinero, Carmen Jiménez-Rejano, José-Jesús Benítez-Lugo, María-Luisa Sánchez-González, María Carmen Int J Environ Res Public Health Review 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 (ROBO3) 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 ROBO3 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. MDPI 2020-06-22 2020-06 /pmc/articles/PMC7345006/ /pubmed/32580277 http://dx.doi.org/10.3390/ijerph17124467 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Pinero-Pinto, Elena Pérez-Cabezas, Verónica Tous-Rivera, Cristina Sánchez-González, José-María Ruiz-Molinero, Carmen Jiménez-Rejano, José-Jesús Benítez-Lugo, María-Luisa Sánchez-González, María Carmen Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review |
title | Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review |
title_full | Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review |
title_fullStr | Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review |
title_full_unstemmed | Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review |
title_short | Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review |
title_sort | mutation in robo3 gene in patients with horizontal gaze palsy with progressive scoliosis syndrome: a systematic review |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7345006/ https://www.ncbi.nlm.nih.gov/pubmed/32580277 http://dx.doi.org/10.3390/ijerph17124467 |
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