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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/097/02/0555-0562

    • Keywords

       

      aniridia; array-CGH; multiplex ligation-dependent probe amplification; PAX6 deletion

    • Abstract

       

      Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (PAX6), but some carry deletions involving the 11p13 region, encompassing partly or completely PAX6 or the region downstream. We identified a novel deletion,∼564 kb in size located about 46.5 kb downstream of PAX6 in a family with bilateral aniridia and foveal hypoplasia using array-CGH and multiplex ligation-dependent probe amplification. We also reviewall of the reported deletions downstream of PAX6 in patients with aniridia and/or other congenitalmalformations and define the overlapping region that leads to aniridia when deleted.

    • Author Affiliations

       

      ANDREAS SYRIMIS1 NAYIA NICOLAOU1 ANGELOS ALEXANDROU2 IOANNIS PAPAEVRIPIDOU2 MICHAEL NICOLAOU1 ELENI LOUKIANOU3 VIOLETTA CHRISTOPHIDOU-ANASTASIADOU1 4 STAVROS MALAS5 CAROLINA SISMANI2 GEORGE A. TANTELES1

      1. Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus
      2. Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus
      3. Department of Ophthalmology, Nicosia General Hospital, 2370 Nicosia, Cyprus
      4. Department of Clinical Genetics, Archbishop Makarios III Medical Centre, 2370 Nicosia, Cyprus
      5. Department of Developmental and Functional Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus
    • Dates

       
  • Journal of Genetics | News

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