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- Title
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
- Authors
Syrimis, Andreas; Nicolaou, Nayia; Alexandrou, Angelos; Papaevripidou, Ioannis; Nicolaou, Michael; Loukianou, Eleni; Christophidou-Anastasiadou, Violetta; Malas, Stavros; Sismani, Carolina; Tanteles, George A.
- 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, ∼<inline-graphic></inline-graphic>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 review all of the reported deletions downstream of PAX6 in patients with aniridia and/or other congenital malformations and define the overlapping region that leads to aniridia when deleted.
- Subjects
ANIRIDIA; GENETIC disorders; HUMAN abnormality genetics; AUTOSOMAL recessive polycystic kidney; PATHOGENIC microorganisms; GENETICS; DIAGNOSIS
- Publication
Journal of Genetics, 2018, Vol 97, Issue 2, p555
- ISSN
0022-1333
- Publication type
Article
- DOI
10.1007/s12041-018-0925-9