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dc.contributor.authorVasudevan, Pradeep
dc.date.accessioned2022-06-16T15:17:49Z
dc.date.available2022-06-16T15:17:49Z
dc.date.issued2021-07
dc.identifier.citationCalpena, E., McGowan, S. J., Blanco Kelly, F., Boudry-Labis, E., Dieux-Coeslier, A., Harrison, R., Johnson, D., Lachlan, K., Morton, J., Stewart, H., Vasudevan, P., Genomics England Research Consortium, Twigg, S., & Wilkie, A. (2021). Dissection of contiguous gene effects for deletions around ERF on chromosome 19. Human mutation, 42(7), 811–817. https://doi.org/10.1002/humu.24213en_US
dc.identifier.urihttp://hdl.handle.net/20.500.12904/15612
dc.description.abstractHeterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. Based on the severity of associated intellectual disability (ID), we identify three categories of ERF-associated deletions. The smallest (32 kb) and only inherited deletion included two additional centromeric genes and was not associated with ID. Three larger deletions (264-314 kb) that included at least five further centromeric genes were associated with moderate ID, suggesting that deletion of one or more of these five genes causes ID. The individual with the most severe ID had a more telomerically extending deletion, including CIC, a known ID gene. Children found to harbor ERF deletions should be referred for craniofacial assessment, to exclude occult raised intracranial pressure.
dc.description.urihttps://onlinelibrary.wiley.com/doi/10.1002/humu.24213en_US
dc.language.isoenen_US
dc.subjectERFen_US
dc.subjectCNVen_US
dc.subjectcraniosynostosisen_US
dc.subjecthaploinsufficiencyen_US
dc.subjectintellectual disabilityen_US
dc.subjectmosaicismen_US
dc.titleDissection of contiguous gene effects for deletions around ERF on chromosome 19en_US
dc.typeArticleen_US
rioxxterms.funderDefault funderen_US
rioxxterms.identifier.projectDefault projecten_US
rioxxterms.versionNAen_US
rioxxterms.versionofrecord10.1002/humu.24213en_US
rioxxterms.typeJournal Article/Reviewen_US
refterms.panelUnspecifieden_US
html.description.abstractHeterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. Based on the severity of associated intellectual disability (ID), we identify three categories of ERF-associated deletions. The smallest (32 kb) and only inherited deletion included two additional centromeric genes and was not associated with ID. Three larger deletions (264-314 kb) that included at least five further centromeric genes were associated with moderate ID, suggesting that deletion of one or more of these five genes causes ID. The individual with the most severe ID had a more telomerically extending deletion, including CIC, a known ID gene. Children found to harbor ERF deletions should be referred for craniofacial assessment, to exclude occult raised intracranial pressure.en_US
rioxxterms.funder.project94a427429a5bcfef7dd04c33360d80cden_US


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