Journal article

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Michael Simpson, Katarzyna A Niemiec, Belen Martin-Martin, Hebah Aldehlawi, Saima Usman, Pak Sang Lee, Anthony P Khawaja, Jonathan B Ruddle, Ameet Shah, Ege Sackey, Alexander Day, Yuzhen Jiang, Geoff Swinfield, Ananth Viswanathan, Giovanna Alfano Show all

PLoS Genetics | PUBLIC LIBRARY SCIENCE | Published : 2020


Current estimates suggest 50% of glaucoma blindness worldwide is caused by primary angle-closure glaucoma (PACG) but the causative gene is not known. We used genetic linkage and whole genome sequencing to identify Spermatogenesis Associated Protein 13, SPATA13 (NM_001166271; NP_001159743, SPATA13 isoform I), also known as ASEF2 (Adenomatous polyposis coli-stimulated guanine nucleotide exchange factor 2), as the causal gene for PACG in a large seven-generation white British family showing variable expression and incomplete penetrance. The 9 bp deletion, c.1432_1440del; p.478_480del was present in all affected individuals with angle-closure disease. We show ubiquitous expression of this transc..

View full abstract


Funding Acknowledgements

The authors would like to acknowledge research funds from NIHR Biomedical Research Centre for Ophthalmology (PJF, NHW, SSB), International Glaucoma Association (PJF, NHW, SL, DFG-H), Moorfield Eye Charity (PJF, NHW, SSB), Rosetrees Trust (AW), Queen Mary Innovations (AW), Richard Desmond Charitable Trust (PJF, PTK, SL), Fight for Sight (PJF). The funders had no role or influence in study design, data collection and analysis, decision to publish, or preparation of the manuscript.