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Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia


Lim, S-H and St Germain, E and Tran-Viet, K-N and Staffieri, S and Marino, M and Dollfus, PH and Nading, EB and Crowe, S and Gole, G and Perdomo-Trujillo, Y and Haybittel, M and Elder, J and Pelletier, V and Traboulsi, E and Mackey, D and Young, TL, Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia, Ophthalmic Genetics, 35, (1) pp. 1-6. ISSN 1381-6810 (2014) [Refereed Article]

Copyright Statement

Copyright 2014 Informa Healthcare

DOI: doi:10.3109/13816810.2012.752017


Purpose: 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.

Conclusions: Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort.

Item Details

Item Type:Refereed Article
Keywords:ATOH7, gene screen, optic disc
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Haybittel, M (Dr Michael Haybittel)
ID Code:98281
Year Published:2014
Web of Science® Times Cited:3
Deposited By:Medicine
Deposited On:2015-02-10
Last Modified:2015-05-12

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