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Implication of non-coding PAX6 mutations in aniridia.

Julie Plaisancié1,2, M Tarilonte3,4, P Ramos3,4

  • 1Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France. plaisancie.j@chu-toulouse.fr.

Human Genetics
|October 7, 2018
PubMed
Summary
This summary is machine-generated.

Genetic analysis of non-coding regions in the PAX6 gene significantly improved molecular diagnosis for aniridia. This study identified novel causative mutations in previously unexplained cases, highlighting the importance of non-coding variants.

Keywords:
5′UTRAniridiaCis-regulatory regionEye developmentMinigene assayNon-coding mutationPAX6

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Area of Science:

  • Genetics
  • Molecular Biology
  • Ophthalmology

Background:

  • Non-coding DNA regions are increasingly implicated in genetic disorders.
  • Sophisticated techniques now allow global genome analysis at genomic, epigenomic, and chromatin levels.
  • PAX6 coding variants are the primary cause of aniridia, but some cases remain undiagnosed.

Purpose of the Study:

  • To investigate non-coding regions of the PAX6 gene for mutations in aniridia patients with no identified coding sequence variants.
  • To enhance the molecular diagnostic rate for aniridia by analyzing regulatory elements and untranslated regions.
  • To determine the functional impact of identified non-coding variants.

Main Methods:

  • High-throughput sequencing (custom targeted resequencing) and array comparative genomic hybridization (CGH array) were used to analyze the entire PAX6 locus (11p13).
  • Screening of upstream and downstream regulatory regions, introns, and untranslated regions of PAX6 in 47 aniridia patients.
  • In vitro functional analysis using a minigene strategy to assess the effect of identified variants in untranslated regions.

Main Results:

  • Candidate variants were found in 30 out of 47 patients.
  • Known 3' deletions encompassing enhancer elements were identified in 9 patients.
  • Numerous novel variants in non-coding regions, particularly untranslated regions, were discovered, with 12 of 21 showing functional effects and considered causative.

Conclusions:

  • The study achieved a molecular diagnostic rate exceeding 90% for aniridia patients by including non-coding region analysis.
  • Non-coding PAX6 regions harbor a significant number of causative mutations for aniridia.
  • PAX6 remains the major gene associated with aniridia, with non-coding variants playing a crucial role.