Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

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dc.contributor.authorSouzeau, Emmanuelleen_US
dc.contributor.authorDubowsky, Andrewen_US
dc.contributor.authorRuddle, Jonathan Ben_US
dc.contributor.authorCraig, Jamie Een_US
dc.date.accessioned2019-11-25T02:36:07Z
dc.date.available2019-11-25T02:36:07Z
dc.date.issued2019-08-01
dc.description© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.en_US
dc.description.abstractBackground: CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). Methods: We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the CYP1B1 gene, followed by Multiplex Ligation-dependent Probe Amplification and SNP array. Results: We identified a homozygous deletion of the CYP1B1 gene by Multiplex Ligation-dependent Probe Amplification and confirmed that the father was heterozygous for a CYP1B1 deletion but the mother had normal gene copy number. SNP array identified paternal uniparental isodisomy of the entire chromosome 2. Conclusions: This study is the first report of a homozygous CYP1B1 whole gene deletion due to paternal uniparental isodisomy of chromosome 2 as a cause of PCG. These results illustrate the importance of genetic testing in providing appropriate genetic counseling regarding the risks of recurrence.en_US
dc.identifier.citationSouzeau, E., Dubowsky, A., Ruddle, J. B., & Craig, J. E. (2019). Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion. Molecular Genetics & Genomic Medicine, 7(8). https://doi.org/10.1002/mgg3.774en_US
dc.identifier.doihttps://doi.org/10.1002/mgg3.774en_US
dc.identifier.issn2324-9269
dc.identifier.urihttp://hdl.handle.net/2328/39333
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relationhttp://purl.org/au-research/grants/NHMRC/1116360en_US
dc.relationhttp://purl.org/au-research/grants/NHMRC/1154824en_US
dc.relation.grantnumberNHMRC/1116360en_US
dc.relation.grantnumberNHMRC/1154824en_US
dc.rights© 2019 The Authors.en_US
dc.rights.holderThe Authors.en_US
dc.subjectchildhood glaucomaen_US
dc.subjectchromosome 2en_US
dc.subjectCYP1B1en_US
dc.subjectgene deletionen_US
dc.subjectprimary congenital glaucomaen_US
dc.subjectuniparental disomyen_US
dc.titlePrimary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletionen_US
dc.typeArticleen_US
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