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A CGH array procedure to detect PAX6 gene structural defects.

Alessandra Franzoni1, Patrizia Dello Russo1, Federica Baldan2

  • 1Istituto di Genetica Medica, Azienda Ospedaliero-Universitaria di Udine, Italy.

Molecular and Cellular Probes
|December 7, 2016
PubMed
Summary
This summary is machine-generated.

A new custom microarray tool precisely maps genomic deletions in aniridia and WAGR syndrome patients. This method identifies individuals with deletions, including the WT1 gene, indicating a risk for kidney tumors.

Keywords:
AniridiaCGH arrayPAX6

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Aniridia is a congenital eye disorder often linked to PAX6 gene mutations.
  • WAGR syndrome involves larger deletions encompassing PAX6 and other genes.
  • Accurate molecular profiling is crucial for diagnosing and managing these conditions.

Purpose of the Study:

  • To develop a high-resolution custom array comparative genomic hybridization (CGHa) tool for analyzing genomic aberrations in aniridia and WAGR syndrome.
  • To precisely define deletion borders in affected individuals.

Main Methods:

  • A custom oligonucleotide-based CGHa microarray kit was designed for the 11p13 chromosomal region, focusing on the PAX6 gene.
  • The array provided high-resolution molecular profiling with an average probe spacing of 100 bp.
  • Thirty-five subjects were analyzed using this CGHa assay.

Main Results:

  • The CGHa tool enabled precise identification of deletion borders, a key advantage over MLPA.
  • Patients with deletions involving the WT1 gene were identified, indicating risk for kidney tumors.
  • Several aniridia patients showed deletions of the ELP4 gene and the PAX6 transcriptional enhancer SIMO, without affecting PAX6 exonic regions.

Conclusions:

  • The custom CGHa assay is an effective tool for high-resolution molecular profiling of genomic aberrations in aniridia and WAGR syndrome.
  • Identifying deletions involving WT1 highlights potential kidney tumor risk.
  • The findings underscore the role of long-range enhancer mutations/deletions, such as SIMO, in monogenic human diseases.