biostudies-literatureUnknown9(7)Lang E<h4>Purpose</h4>The aim of this study was to investigate the molecular basis of childhood glaucoma in Switzerland to recommend future targeted genetic analysis in the Swiss population.<h4>Methods</h4>Whole-exome sequencing and copy number variation (CNV) analysis was performed in a Swiss cohort of 18 patients from 14 unrelated families. Identified variants were validated by Sanger sequencing and multiplex ligation-dependent probe amplification. Breakpoints of structural variants were determined by a microarray. A minigene assay was conducted for functional analysis of a splice site variant.<h4>Results</h4>A diagnosis of primary congenital glaucoma was made in 14 patients, of which six (43%) harbored pathogenic variants in <i>CYP1B1</i>, one (7%) a frameshift variant in <i>FOXC1</i>, and seTranslational vision science & technology47https://www.ebi.ac.uk/biostudies/studies/S-EPMC7414719biostudies-literatureExome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes.PMC7414719Gerth-Kahlert CBahr LAtac DRoulez FFeil SLang EBerger WSteindl KKoller SToteberg-Harms MBahr AfalseExome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes.<h4>Purpose</h4>The aim of this study was to investigate the molecular basis of childhood glaucoma in Switzerland to recommend future targeted genetic analysis in the Swiss population.<h4>Methods</h4>Whole-exome sequencing and copy number variation (CNV) analysis was performed in a Swiss cohort of 18 patients from 14 unrelated families. Identified variants were validated by Sanger sequencing and multiplex ligation-dependent probe amplification. Breakpoints of structural variants were determined by a microarray. A minigene assay was conducted for functional analysis of a splice site variant.<h4>Results</h4>A diagnosis of primary congenital glaucoma was made in 14 patients, of which six (43%) harbored pathogenic variants in <i>CYP1B1</i>, one (7%) a frameshift variant in <i>FOXC1</i>, and se2020-01-01T00:00:00Z2020 Jun2026-05-02T18:32:20.531Z2020-08-24T07:07:13ZS-EPMC74147193283225210.1167/tvst.9.7.47