https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49050 Wed 03 May 2023 15:40:01 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26066 Thu 20 Aug 2020 09:19:59 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:32529 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.]]> Thu 16 Aug 2018 10:03:57 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:18742 2 years) was associated with poor survival in both groups.Conclusions: FPC represents 9% of PC, and the risk of malignancy in kindred does not appear to be confined to the pancreas. Patients with FPC have more precursor lesions and include fewer active smokers, but other clinicopathologic factors and outcome are similar to those in patients with SPC. Furthermore, some FPC kindreds may exhibit anticipation. A better understanding of the clinical features of PC will facilitate efforts to uncover novel susceptibility genes and the development of early detection strategies.]]> Sat 24 Mar 2018 08:02:49 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20038 Sat 24 Mar 2018 07:50:54 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42320 Mon 22 Aug 2022 09:49:26 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46225 Fri 09 Dec 2022 14:48:55 AEDT ]]>