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

Giray Bozkaya,Ozlem; Ataman,Esra; Aksel Kilicarslan,Ozge; Cankaya,Tufan; Ulgenalp,Ayfer

doi:10.3892/mmr.2016.5467

September-2016 Volume 14 Issue 3

Full Size Image

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

An International Open Access Journal Devoted to General Medicine.

September-2016 Volume 14 Issue 3

Full Size Image

Article

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

Authors:
- Ozlem Giray Bozkaya
- Esra Ataman
- Ozge Aksel Kilicarslan
- Tufan Cankaya
- Ayfer Ulgenalp
View Affiliations / Copyright

Affiliations: Department of Pediatrics, Division of Pediatric Genetic Diseases, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey, Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey
Pages: 2150-2154
|
Published online on: July 5, 2016

https://doi.org/10.3892/mmr.2016.5467
Expand metrics +

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.

View Figures

View References

1	Kokotas H and Peterson MB: Clinical and molecular aspects of aniridia. Clin Genet. 77:409–420. 2010. View Article : Google Scholar : PubMed/NCBI
2	Hingorani M, Hanson I and van Heyningen V: Aniridia. Eur J Hum Genet. 20:1011–1017. 2012. View Article : Google Scholar : PubMed/NCBI
3	Axton R, Hanson I, Danes S, Sellar G, van Heyningen V and Prosser J: The incidence of PAX6 mutation in patients with simple aniridia: An evaluation of mutation detection in 12 cases. J Med Genet. 34:279–286. 1997. View Article : Google Scholar : PubMed/NCBI
4	Lee HJ and Colby KA: A review of the clinical and genetics aspects of aniridia. Semin Ophthalmol. 28:306–312. 2013. View Article : Google Scholar : PubMed/NCBI
5	Singh S, Chao LY, Mishra R, Davies J and Saunders GF: Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet. 10:911–918. 2001. View Article : Google Scholar : PubMed/NCBI
6	Tzoulaki I, White IM and Hanson IM: PAX6 mutations: Genotype-phenotype correlations. BMC Genet. 6:272005. View Article : Google Scholar : PubMed/NCBI
7	Hingorani M, Williamson KA, Moore AT and van Heyningen V: Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci. 50:2581–2590. 2009. View Article : Google Scholar : PubMed/NCBI
8	Baum L, Pang CP, Fan DS, Poon PM, Leung YF, Chua JK and Lam DS: Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia. Hum Mutat. 14:272–273. 1999. View Article : Google Scholar : PubMed/NCBI
9	Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M and Hasegawa T: Heterozygous defects in PAX6 gene and congenital hypopituitarism. Eur J Endocrinol. 172:37–45. 2015. View Article : Google Scholar