Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
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ABSTRACT:
SUBMITTER: Lim SH
PROVIDER: S-EPMC4159081 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Publications
Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
Lim Sing-Hui SH St Germain Elizabeth E Tran-Viet Khanh-Nhat KN Staffieri Sandra S Marino Meghan M Dollfus Pr Hélène PH Nading Erica B EB Crowe Sue S Gole Glen G Perdomo-Trujillo Yaumara Y Haybittel Michael M Elder James J Pelletier Valérie V Traboulsi Elias E Mackey David D Young Terri L TL
Ophthalmic genetics 20130626 1
<h4>Background</h4>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.<h4>Methods</h4>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 segregat ...[more]
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