{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(7)"],"submitter":["Lang E"],"pubmed_abstract":["<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 se"],"journal":["Translational vision science & technology"],"pagination":["47"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7414719"],"repository":["biostudies-literature"],"pubmed_title":["Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes."],"pmcid":["PMC7414719"],"pubmed_authors":["Gerth-Kahlert C","Bahr L","Atac D","Roulez F","Feil S","Lang E","Berger W","Steindl K","Koller S","Toteberg-Harms M","Bahr A"],"additional_accession":[]},"is_claimable":false,"name":"Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes.","description":"<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 se","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jun","modification":"2026-05-02T18:32:20.531Z","creation":"2020-08-24T07:07:13Z"},"accession":"S-EPMC7414719","cross_references":{"pubmed":["32832252"],"doi":["10.1167/tvst.9.7.47"]}}