Journal article

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

James A Poulter, Musallam Al-Araimi, Ivan Conte, Maria M van Genderen, Eamonn Sheridan, Ian M Carr, David A Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I Sergouniotis, Andrew R Webster, Anthony T Moore, Bishwanath Pal, Moin D Mohamed, Anandula Venkataramana, Vedam Ramprasad, Rohit Shetty Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2013


Awarded by Italian Telethon Foundation

Awarded by Italian Ministry of Research

Awarded by Sir Jules Thorn Award for Biomedical Research

Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

Awarded by National Institute for Health Research

Funding Acknowledgements

We thank the families who participated in this study. We thank J. Deuchars and M. Singh for advice with immunohistochemistry and A. Hindley and the Leeds Tissue Bank for providing and processing samples. We thank J. Wittbrodt for providing the ATH5::GFP medaka transgenic line and A.E. Davidson and Z. Li for supporting genetic analysis. This work was supported by a Royal Society University Research Fellowship (C.T.), University of Leeds Emma and Leslie Reid Scholarship (J.A.P.), Omani Government scholarship (M.A.-A.), Yorkshire Eye Research, the Italian Telethon Foundation (project grant TGM11SB2), the Italian Ministry of Research (PONA3_00311), RP Fighting Blindness, Fight For Sight, Foundation Fighting Blindness, National Institute for Health Research Moorfields Eye Hospital Biomedical Research Centre, and the Sir Jules Thorn Award for Biomedical Research (#JTA/09). We thank the Raine Study participants and staff for cohort coordination and data collection, particularly Jenny Mountain, Wei Ang, Craig Pennell, Hannah Forward, Charlotte McKnight, Seyhan Yazar, Alla Soloshenko, Sandra Oates, and Diane Wood. The core management of the Raine Study is funded by the University of Western Australia (UWA), Telethon Institute for Child Health Research, Raine Medical Research Foundation, UWA Faculty of Medicine, Dentistry and Health Sciences, Women's and Infant's Research Foundation, and Curtin University. Genotyping was funded by National Health and Medical Research Council (NHMRC) grant 572613. The Raine Eye Health Study was supported by NHMRC grant 1021105, the Lions Eye Institute, the Australian Foundation for the Prevention of Blindness, the Ophthalmic Research Institute of Australia, and the Alcon Research Institute.