https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52411 Wed 11 Oct 2023 12:00:07 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34552 UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability. Unlike typical AS syndrome, they can have a vocabulary up to 100 words and speak in sentences. Ataxia and seizures may not be present, and the majority of individuals do not have microcephaly. Here we review the current literature and present three individuals with atypical AS caused by a mosaic imprinting defect to demonstrate why DNA methylation analysis at the SNRPN locus needs to be considered in a broader clinical context.]]> Wed 10 Nov 2021 15:05:10 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:55114 Wed 10 Apr 2024 15:52:22 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:33069 ATP2A2 (ATPase, Ca⁺⁺ transporting, cardiac muscle, slow-twitch) a gene encoding one of the SERCA (sarcoplasmic/endoplasmic reticulum calcium ATPase2) intracellular pumps with a crucial role in cell-to-cell adhesion in both skin and heart. While hundreds of different missense and nonsense mutations cause Darier disease, only one missense mutation, p.(Pro602Leu), has been identified in families with AKV. We report a family with AKV due to the p.(Pro602Leu) mutation and discuss implications for this recurrent mutation on knowledge of ATP2A2 structure and function.]]> Wed 04 Sep 2019 09:53:53 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:42245 Tue 21 Mar 2023 19:04:35 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49856 Tue 06 Jun 2023 15:31:35 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8169 Sat 24 Mar 2018 08:36:05 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:12608 Sat 24 Mar 2018 08:17:27 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:21459 ST8SIA2, C15orf32, and FAM174B. Alpha-2,8-Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain and appears to play an important role in neuronal migration, axon guidance and synaptic plasticity. It has recently been implicated in a genome wide association study as a potential factor underlying autism, and has also been implicated in the pathogenesis of bipolar disorder and schizophrenia. This case provides supportive evidence that ST8SIA2 haploinsufficiency may play a role in neurobehavioral phenotypes.]]> Sat 24 Mar 2018 08:05:45 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:5230 Sat 24 Mar 2018 07:44:18 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28674 Sat 24 Mar 2018 07:37:10 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30056 Sat 24 Mar 2018 07:31:15 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28217 200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology. We show that he has tissue mosaicism in blood, saliva, and buccal samples for the size and methylation of his expanded alleles and a de novo, unmethylated microdeletion. This microdeletion involves a ~80 bp sequence in the FMR1 promoter as well as complete loss of the CGG repeat in a proportion of cells. Despite FMR1 mRNA levels in blood within the normal range, the methylation and CGG sizing results are consistent with the diagnosis of concurrent FXS and probable FXTAS. The demonstrated presence of unmethylated FM alleles would explain the manifestation of milder than expected cognitive and behavioral impairments and early onset of cerebellar ataxia. Our case suggests that individuals with FXS, who manifest symptoms of FXTAS, may benefit from more detailed laboratory testing.]]> Sat 24 Mar 2018 07:28:29 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:24254 Sat 24 Mar 2018 07:15:08 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45695 Fri 04 Nov 2022 10:01:23 AEDT ]]>