COL18A1 is a candidate eye iridocorneal angle-closure gene in humans

摘要: Primary angle-closure glaucoma (PACG) is a common form of in the Far East. Its defining feature iridocorneal angle closure. In addition to PACG, indications closure are included diagnostic criteria related conditions primary suspect (PACS) and (PAC). To best our knowledge, causative gene for humans has not been identified. This study aimed identify genetic cause pedigree with at least 10 individuals diagnosed PACS, PAC or PACG. Results linkage analysis, segregation analysis 44 novel variations, whole exome sequencing individuals, screenings controls bioinformatics predictions identified mutation COL18A1 that encodes collagen type XVIII as most likely pedigree. The role etiology Knobloch syndrome (KS) consistently accompanied by optic anomalies, available functional data on encoded protein recognized collagens extracellular matrix pathogenesis supported proposed Subsequent identification other mutations PACS affected two unrelated families further may affect These were parents grandparents KS-affected children. conclusion, affects humans, critical findings also reinforce importance eye features functions.