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

Lim, Sing-Hui, St. Germain, Elizabeth, Tran-Viet, Khanh-Nhat, Staffieri, Sandra, Marino, Meghan, Dollfus, Pr Helene, Nading, Erica B., Crowe, Sue, Gole, Gole, Perdomo-Trujillo, Yaumara, Haybittel, Michael, Elder, James, Pelletier, Valerie, Traboulsi, Elias, Mackey, David and Young, Terri L. (2014) Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia. Ophthalmic Genetics, 35 1: 1-6. doi:10.3109/13816810.2012.752017

Author Lim, Sing-Hui
St. Germain, Elizabeth
Tran-Viet, Khanh-Nhat
Staffieri, Sandra
Marino, Meghan
Dollfus, Pr Helene
Nading, Erica B.
Crowe, Sue
Gole, Gole
Perdomo-Trujillo, Yaumara
Haybittel, Michael
Elder, James
Pelletier, Valerie
Traboulsi, Elias
Mackey, David
Young, Terri L.
Title Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia
Journal name Ophthalmic Genetics   Check publisher's open access policy
ISSN 1381-6810
Publication date 2014-01-01
Year available 2013
Sub-type Article (original research)
DOI 10.3109/13816810.2012.752017
Volume 35
Issue 1
Start page 1
End page 6
Total pages 6
Place of publication London, United Kingdom
Publisher Informa Healthcare
Language eng
Formatted 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.

Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort. 
Keyword ATOH7
Gene screen
Optic disc
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
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