Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

doi:10.1371/journal.pgen.1008721

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Article

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

PLoS genetics - 1 Apr 2020

Waseem Naushin H, Low Sancy, Shah Amna Z, Avisetti Deepa, Ostergaard Pia, Simpson Michael, Niemiec Katarzyna A, Martin-Martin Belen, Aldehlawi Hebah, Usman Saima, Lee Pak Sang, Khawaja Anthony P, Ruddle Jonathan B, Shah Ameet, Sackey Ege, Day Alexander, Jiang Yuzhen, Swinfield Geoff, Viswanathan Ananth, Alfano Giovanna, Chakarova Christina, Cordell Heather J, Garway-Heath David F, Khaw Peng T, Bhattacharya Shomi S, Waseem Ahmad, Foster Paul J

Abstract excerpt

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...

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PMID: 32339198
DOI: 10.1371/journal.pgen.1008721
PMCID: PMC7233598

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