Journal article
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
E Souzeau, OM Siggs, T Zhou, A Galanopoulos, T Hodson, D Taranath, RA Mills, J Landers, J Pater, JE Smith, JE Elder, JL Rait, P Giles, V Phakey, SE Staffieri, LS Kearns, A Dubowsky, DA MacKey, AW Hewitt, JB Ruddle Show all
European Journal of Human Genetics | SPRINGERNATURE | Published : 2017
DOI: 10.1038/ejhg.2017.59
Open access
Abstract
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related penetrance and the full phenotypic spectrum of glaucoma in FOXC1 or PITX2 carriers recruited through a national disease registry. All coding exons of FOXC1 and PITX2 were directly sequenced and multiplex ligation-dependent probe amplification was performed to detect copy number variation. The..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This project was supported by The RANZCO Eye Foundation (www.eyefoundation.org.au, Sydney, Australia), the Ophthalmic Research Institute of Australia, Glaucoma Australia (www.glaucoma.org.au, Sydney, Australia) and the Australian National Health and Medical Research Council (NHMRC) Centres of Research Excellence Grant 1023911 (2012-2016). JEC is an NHMRC Practitioner Fellow. KPB and AWH are supported by an NHMRC Senior Research Fellowship. The Centre for Eye Research Australia (CERA) received Operational Infrastructure Support from the Victorian Government. We thank Angela Chappell and Carly Emerson for the ophthalmic photographs and Bastien Llamas for Figures 3 and 4.