biostudies-literatureUnknown55(5)Micheal SRadboud University Medical CenterGlaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was performed on DNA of two affected individuals, and predicted pathogenic variants were evaluated for segregation in four affected and three unaffected Dutch family members by Sanger sequencing. We identified a pathogenic variant (p.Val956Gly) in the PRPF8 gene, which segregates with the disease in Dutch family. Targeted Sanger sequencing of PRPF8 in a panel of 40 POAG families (18 PakistaniMolecular neurobiology4504-4510https://www.ebi.ac.uk/biostudies/studies/S-EPMC5884903biostudies-literatureVariants in the PRPF8 Gene are Associated with Glaucoma.PMC5884903Siddiqui SNAkhtar FZafar SNHoyng CBden Hollander AIKhan MIMicheal SQamar RHogewind BFfalseVariants in the PRPF8 Gene are Associated with Glaucoma.Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was performed on DNA of two affected individuals, and predicted pathogenic variants were evaluated for segregation in four affected and three unaffected Dutch family members by Sanger sequencing. We identified a pathogenic variant (p.Val956Gly) in the PRPF8 gene, which segregates with the disease in Dutch family. Targeted Sanger sequencing of PRPF8 in a panel of 40 POAG families (18 Pakistani2018-01-01T00:00:00Z2018 May2025-04-18T11:57:29.689Z2019-03-26T23:27:57ZS-EPMC58849032870706910.1007/s12035-017-0673-5