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Original research
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

Authors

  • Maria Tarilonte Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Patricia Ramos Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain PubMed articlesGoogle scholar articles
  • Jennifer Moya Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain PubMed articlesGoogle scholar articles
  • Guilermo Fernandez-Sanz Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain Department of Ophthalmology, Clínica Universidad de Navarra, Madrid, Spain PubMed articlesGoogle scholar articles
  • Fiona Blanco-Kelly Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Saoud Tahsin Swafiri Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Cristina Villaverde Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Raquel Romero Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain PubMed articlesGoogle scholar articles
  • Alejandra Tamayo Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Blanca Gener Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain Department of Genetics, Cruces University Hospital, BioCruces Health Research Institute, Barakaldo, Spain PubMed articlesGoogle scholar articles
  • Patrick Calvas Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France INSERM U1056, Université Toulouse III, Toulouse, France PubMed articlesGoogle scholar articles
  • Carmen Ayuso Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Marta Corton Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Marta Corton, Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital, Madrid 28040, Spain; mcorton{at}fjd.es
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Citation

Tarilonte M, Ramos P, Moya J, et al
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
Journal of Medical Genetics 2022;59:428-437.

Publication history

  • Received February 20, 2020
  • Revised January 22, 2021
  • Accepted February 14, 2021
  • First published March 29, 2021.
Online issue publication 
May 09, 2022

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.