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Whole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomalies

2016-10Journal article Open access
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dc.contributor.authorReis, LM
dc.contributor.authorTyler, RC
dc.contributor.authorWeh, E
dc.contributor.authorHendee, KE
dc.contributor.authorSchilter, K F
dc.contributor.authorPhillips, JA
dc.contributor.authorSequeira, S
dc.contributor.authorSchinzel, A
dc.contributor.authorSemina, EV
dc.date.accessioned2017-11-14T13:02:07Z
dc.date.available2017-11-14T13:02:07Z
dc.date.issued2016-10
dc.description.abstractThe genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three probands; in two of these, a combination of two Mendelian disorders was found to completely explain the patients' features whereas in the third case only the ocular findings could be explained by the genetic diagnosis. The molecular diagnosis for glaucoma included two cases with compound heterozygous or homozygous pathogenic alleles in CYP1B1 and one family with a dominant pathogenic variant in FOXC1; the second genetic diagnosis for the additional systemic features included compound heterozygous mutations in NPHS1 in one family and a heterozygous 18q23 deletion in another pedigree. These findings show the power of WES in the analysis of complex conditions and emphasize the importance of CYP1B1 screening in patients with congenital glaucoma regardless of the presence/absence of other systemic anomalies.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClin Genet. 2016 Oct;90(4):378-82.pt_PT
dc.identifier.doi10.1111/cge.12816pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2795
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherJohn Wiley and Sonspt_PT
dc.subjectAllelespt_PT
dc.subjectCytochrome P-450 CYP1B1pt_PT
dc.subjectDNA Mutational Analysispt_PT
dc.subjectExomept_PT
dc.subjectFemalept_PT
dc.subjectForkhead Transcription Factorspt_PT
dc.subjectGlaucomapt_PT
dc.subjectHeterozygotept_PT
dc.subjectHumanspt_PT
dc.subjectInfantpt_PT
dc.subjectMalept_PT
dc.subjectMembrane Proteinspt_PT
dc.subjectPedigreept_PT
dc.subjectSequence Analysis, DNApt_PT
dc.subjectHDE MTBpt_PT
dc.titleWhole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomaliespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage382pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage378-82pt_PT
oaire.citation.volume90pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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