Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/123203
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Type: Journal article
Title: Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma
Author: Awadalla, M.S.
Fingert, J.H.
Roos, B.E.
Chen, S.
Holmes, R.
Graham, S.L.
Chehade, M.
Galanopolous, A.
Ridge, B.
Souzeau, E.
Zhou, T.
Siggs, O.M.
Hewitt, A.W.
Mackey, D.A.
Burdon, K.P.
Craig, J.E.
Citation: American Journal of Ophthalmology, 2015; 159(1):124-130
Publisher: Elsevier
Issue Date: 2015
ISSN: 0002-9394
1879-1891
Statement of
Responsibility: 
Mona S.Awadalla, John H.Fingert, Benjamin E.Roos, Simon Chen, Richard Holmes ... Mark Chehade ... et al.
Abstract: PURPOSE:To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. DESIGN:A retrospective cohort study. METHODS:DNA samples from patients with normal-tension glaucoma and high-tension glaucoma and unaffected controls were screened for TBK1 copy number variations using real-time quantitative polymerase chain reaction. Samples with additional copies of the TBK1 gene were further tested using custom comparative genomic hybridization arrays. RESULTS:Four out of 334 normal-tension glaucoma cases (1.2%) were found to carry TBK1 copy number variations using quantitative polymerase chain reaction. One extra dose of the TBK1 gene (duplication) was detected in 3 normal-tension glaucoma patients, while 2 extra doses of the gene (triplication) were detected in a fourth normal-tension glaucoma patient. The results were further confirmed by custom comparative genomic hybridization arrays. Further, the TBK1 copy number variation segregated with normal-tension glaucoma in the family members of the probands, showing an autosomal dominant pattern of inheritance. No TBK1 copy number variations were detected in 1045 Australian patients with high-tension glaucoma or in 254 unaffected controls. CONCLUSION:We report the presence of TBK1 copy number variations in our Australian normal-tension glaucoma cohort, including the first example of more than 1 extra copy of this gene in glaucoma patients (gene triplication). These results confirm TBK1 to be an important cause of normal-tension glaucoma, but do not suggest common involvement in high-tension glaucoma.
Keywords: Protein-Serine-Threonine Kinases
Rights: © 2015 BY ELSEVIER INC. All Rights Reserved.
DOI: 10.1016/j.ajo.2014.09.044
Grant ID: NHMRC
http://purl.org/au-research/grants/nhmrc/1023911
Published version: http://dx.doi.org/10.1016/j.ajo.2014.09.044
Appears in Collections:Aurora harvest 4
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