Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/113335
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dc.contributor.author | Palmer, E.E. | - |
dc.contributor.author | Kumar, R. | - |
dc.contributor.author | Gordon, C.T. | - |
dc.contributor.author | Shaw, M. | - |
dc.contributor.author | Hubert, L. | - |
dc.contributor.author | Carroll, R. | - |
dc.contributor.author | Rio, M. | - |
dc.contributor.author | Murray, L. | - |
dc.contributor.author | Leffler, M. | - |
dc.contributor.author | Dudding-Byth, T. | - |
dc.contributor.author | Oufadem, M. | - |
dc.contributor.author | Lalani, S.R. | - |
dc.contributor.author | Lewis, A.M. | - |
dc.contributor.author | Xia, F. | - |
dc.contributor.author | Tam, A. | - |
dc.contributor.author | Webster, R. | - |
dc.contributor.author | Brammah, S. | - |
dc.contributor.author | Filippini, F. | - |
dc.contributor.author | Pollard, J. | - |
dc.contributor.author | Spies, J. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | American Journal of Human Genetics, 2017; 101(6):995-1005 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.issn | 1537-6605 | - |
dc.identifier.uri | http://hdl.handle.net/2440/113335 | - |
dc.description.abstract | A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations. We show that the c.2737C>T variant does not trigger nonsense-mediated decay of the ZSWIM6 mRNA in affected individual-derived cells. This finding supports the existence of a truncated ZSWIM6 protein lacking the Sin3-like domain, which could have a dominant-negative effect. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes. | - |
dc.description.statementofresponsibility | Elizabeth E. Palmer, Raman Kumar, Christopher T. Gordon … Jozef Gecz … Raman K. Sharma … Marie A. Shaw … et al. | - |
dc.language.iso | en | - |
dc.publisher | Cell Press | - |
dc.rights | © 2017 American Society of Human Genetics. | - |
dc.source.uri | http://dx.doi.org/10.1016/j.ajhg.2017.10.009 | - |
dc.subject | Mandibulofacial Dysostosis | - |
dc.title | A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1016/j.ajhg.2017.10.009 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1091593 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Kumar, R. [0000-0001-7976-8386] | - |
dc.identifier.orcid | Shaw, M. [0000-0002-5060-190X] | - |
dc.identifier.orcid | Carroll, R. [0000-0002-6979-3710] | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest 8 Genetics publications |
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