PubMed ID: 23802135
Author(s): Lim SH, St Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL. Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia. Ophthalmic Genet. 2014 Mar;35(1):1-6. doi: 10.3109/13816810.2012.752017. Epub 2013 Jun 26. PMID 23802135
Journal: Ophthalmic Genetics, Volume 35, Issue 1, Mar 2014
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.
CONCLUSIONS Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort.