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 2014 Informa Healthcare
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 Type:||Refereed Article|
|Keywords:||ATOH7, gene screen, optic disc|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Haybittel, M (Dr Michael Haybittel)|
|Web of Science® Times Cited:||2|
|Deposited By:||Medicine (Discipline)|
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