https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49050 Wed 03 May 2023 15:40:01 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50575 Tue 01 Aug 2023 09:52:01 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8177 Sat 24 Mar 2018 08:36:15 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13258 Sat 24 Mar 2018 08:15:59 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:10874 Sat 24 Mar 2018 08:14:31 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:10084 G/p.Tyr179Cys and c.1187G>A/p.Gly396Asp (previously c.494A>G/p.Tyr165Cys and c.1145G>A/p.Gly382Asp). However, for a substantial fraction of the detected variants, the clinical significance remains uncertain, compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants, respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.]]> Sat 24 Mar 2018 08:12:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28748 Sat 24 Mar 2018 07:37:35 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:26198 Sat 24 Mar 2018 07:37:07 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:29884 PIGN were identified in the siblings, with appropriate parental segregation: a novel STOP mutation (c.1966C>T: p.Glu656X) and a rare (minor allele frequency <0.001) donor splice site mutation (c.1674+1G>C) causing skipping of exon 18 and utilization of a cryptic acceptor site in exon 19. A further novel homozygous STOP mutation in PIGN (c.694A>T: p.Lys232X) was detected in one unrelated case. All three variants affected highly conserved bases. The two remaining cases were negative for PIGN mutations. Mutations in PIGN have been reported in cases with multiple congenital anomalies, including one case with syndromic CDH. Fryns syndrome can be caused by recessive mutations in PIGN. Whether PIGN affects other syndromic and non-syndromic forms of CDH warrants investigation.]]> Sat 24 Mar 2018 07:33:47 AEDT ]]>