Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia

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Giray Bozkaya Ö., Ataman E., Kilicarslan O. A., Çankaya T., Ülgenalp A.

MOLECULAR MEDICINE REPORTS, vol.14, no.3, pp.2150-2154, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 3
  • Publication Date: 2016
  • Doi Number: 10.3892/mmr.2016.5467
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2150-2154
  • Keywords: aniridia, congenital cataract, eye development, PAX6 gene, Sanger sequencing, non-stop mutation, novel mutation, MUTATIONS
  • Dokuz Eylül University Affiliated: Yes


Aniridia is a congenital, panocular abnormality which is characterized by partial or complete absence of iris and various degrees of iris hypoplasia. Mutations in the PAX6 gene are found in similar to 90% of cases with aniridia. The human PAX6 gene is located at chromosome 11p13 and encodes a transcriptional regulator that has crucial roles in the development of the eyes, central nervous system and pancreatic islets. The present study performed a clinical and genomic analysis of two families containing multiple cases of aniridia. All exons of the PAX6 gene of the probands were sequenced using the Sanger sequencing technique. A heterozygous non-stop mutation in exon 14 was identified in the first family, which has been previously reported for a different ophthalmological pathology. This mutation causes on-going translation of the mRNA into the 3-untranslated region. In the second family, a novel frameshift heterozygous deletion in exon 8 was identified.