title: Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.
abstract: 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 ~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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Genetic Diseases, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Giray Bozkaya
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
authors.forename: Esra
authors.initials: E
authors.lastname: Ataman
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
authors.forename: Ozge
authors.initials: O
authors.lastname: Aksel Kilicarslan
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
authors.forename: Tufan
authors.initials: T
authors.lastname: Cankaya
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
authors.forename: Ayfer
authors.initials: A
authors.lastname: Ulgenalp
mesh_terms: D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D003241:Consanguinity; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D000071841:PAX6 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D000071841:PAX6 Transcription Factor