Journal article
Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia
SH Lim, E St. Germain, KN Tran-Viet, S Staffieri, M Marino, PH Dollfus, EB Nading, S Crowe, G Gole, Y Perdomo-Trujillo, M Haybittel, J Elder, V Pelletier, E Traboulsi, D Mackey, TL Young
Ophthalmic Genetics | INFORMA HEALTHCARE | Published : 2014
Abstract
Background: The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in theATOH7 gene using Sanger sequencing. Methods: Sanger sequencing of theATOH7 gene was performed on 34 affected individual DNA samples. Sequencing was also carried out in three unaffected family members to confirm segregation of identified single nucleotide variations. Results: Seven sequence variations were identified in ATOH7. No disease-causing sequence changes in the ATOH7 gene was discovered in the ONH patient samples. Conclus..
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Awarded by National Institutes of Health
Funding Acknowledgements
This research was funded by a National Institutes of Health Grant R01 EY014685, the Lew Wasserman Award from Research to Prevent Blindness Inc., Chicago, Illinois, and a Duke-National University of Singapore core grant to Terri Young. The sponsors or funding organizations had no role in the design or conduct of this research.