A5024870594- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Mitochondrial Function and Pathology
- Endoplasmic Reticulum Stress and Disease
- Connexins and lens biology
- Music and Audio Processing
- Eastern European Communism and Reforms
- Parkinson's Disease Mechanisms and Treatments
- Diverse Musicological Studies
- Cystic Fibrosis Research Advances
- RNA regulation and disease
- Retinal Development and Disorders
- Breast Cancer Treatment Studies
- Vestibular and auditory disorders
- Education, Achievement, and Giftedness
- Obsessive-Compulsive Spectrum Disorders
- Congenital heart defects research
- Poverty, Education, and Child Welfare
- Genomics and Rare Diseases
Hunter Genetics
2009-2022
Hunter New England Local Health District
2020
Goulburn Base Hospital
1996
We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males mild intellectual disability (ID), obsessive behaviour, limited friendships and were introverted placid during clinical interview. disclosed episodic explosive aggression after diagnosis was made. second missense MAOA (p.R45W). borderline-mild ID, attention deficit disorder friendships. One history...
<h3>Importance</h3> Newborn screening for Angelman syndrome (AS), Prader-Willi (PWS), and chromosome 15 duplication (Dup15q) may lead to benefit from early diagnosis treatment. <h3>Objective</h3> To examine the feasibility of newborn these imprinting disorders at population scale. <h3>Design, Setting, Participants</h3> In this diagnostic study, validation data set first-tier<i>SNRPN</i>test, called methylation-specific quantitative melt analysis (MS-QMA), included 109 PWS, 48 AS, 9 Dup15q,...
Abstract Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with CGG expansion, termed full mutation (FM: ≥ 200), increased DNA methylation the FMR1 promoter silencing gene. Mosaicism for presence cells either methylated FM or smaller unmethylated pre-mutation (PM: 55–199) alleles in same individual have been better cognitive functioning. This study compares age- sex-matched FM-only PM/FM mosaic individuals...
Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it caused by loss the
Abstract Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability mean age diagnosis in Australia 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing “diagnostic odyssey”, allowing access to interventions, and providing reproductive information parents. Parents affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study 2009–2010 was performed a tertiary hospital...
Prader-Willi syndrome (PWS) and Angelman (AS) are neurodevelopmental disorders that caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation located this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) both disorders. This study aimed to explore symptoms ASD 25 PWS 19 AS individuals aged between 1 39 years via objective assessment. Participants completed Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2)...
Recent evidence suggests that early changes in postural control may be discernible among females with premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene at risk developing X-associated tremor ataxia syndrome (FXTAS). Cerebellar dysfunction is well described males and FXTAS, yet interrelationships between cerebellar volume, repeat length, FMR1 messenger RNA (mRNA) levels remain unknown. This study examined sway during standing a cohort 22 (ages...
CGG repeat expansion >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 intellectual disability co‐morbid autism. Unmethylated premutation (55–199 repeats) FM alleles have related tremor/ataxia (FXTAS), a late onset neurodegenerative disorder. Here we present 33‐year‐old male FXS, white matter changes progressive deterioration in gait cerebellar signs consistent...
Abstract Chromosome 15 (C15) imprinting disorders including Prader–Willi (PWS), Angelman (AS) and chromosome duplication (Dup15q) syndromes are severe neurodevelopmental caused by abnormal expression of genes from the 15q11–q13 region, associated with DNA methylation and/or copy number changes. This study compared changes in mRNA levels UBE3A SNORD116 located within region between these their subtypes related to clinical phenotypes. The cohort included 58 participants affected a C15 disorder...
Objective To assess the feasibility of offering community testing for carrier status ΔF508, a gene mutation associated with cystic fibrosis (CF). Design Prospective pilot survey. Setting General practice, two main high schools and workplaces in country towns Young Harden (combined population, 14940; 7707 people aged 16–55 years) New South Wales (NSW). Participants Individuals 16 years over. Main outcome measures Number ΔF508 carriers, test uptake rates, mode learning about testing,...
Abstract Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning females fragile syndrome (FXS). This study explored these relationships a paediatric cohort males FXS using Buccal Epithelial Cells (BEC). BEC were collected from 25 FXS, aged 3 to 17 years and 19 age-matched male controls without FXS. Methylation 9 CpG sites within FREE2 region was examined EpiTYPER approach. Full Scale IQ...
Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and decrease in FMR1 mRNA its protein (FMRP), incomplete silencing has been associated more severe autism features FXS males. This study reports on brothers (B1 B2), aged 5 2 years, autistic language delay, but higher non-verbal IQ comparison to typical FXS. CGG sizing using AmplideX PCR only identified premutation (PM: 55-199 CGGs) alleles blood....
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility the X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Methylation Specific-Quantitative Melt Analysis EpiTYPER system, in retrospectively retrieved newborn blood spots (NBS) newly created dried (DBS) from 65 children FXS (~2–17 years). A further 168 NBS infants general population were used to establish control...
Recently it has been reported that late-onset tremor, gait unsteadiness and dementia can be associated with brain atrophy in males of normal intelligence the pre-mutation carrier state fragile X syndrome. We have shown, by means a telephone survey, this association is probably causal rather than coincidental. These findings uncovered another testable cause neurological symptoms males, which also serious genetic implications for their daughters who are at risk having sons full mutations...
Abstract Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and decrease in FMR1 mRNA its protein. However, incomplete silencing from FM alleles has been associated more severe autism features FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-C FX ) 62 males affected (3 to 32 years) stratified based presence or absence of mosaicism and/or silencing. Associations between ABC-C subscales...
Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to full mutation expansion (full [FM]: CGG ≥ 200 repeats) and silencing . Assessment mosaicism for active‐unmethylated alleles has prognostic utility. This study examined relationships between methylation in different tissues with messenger ribonucleic acid (mRNA) intellectual functioning 87 males FXS (1.89–43.17 years age). Methylation sensitive Southern blot (mSB) Specific‐Quantitative Melt Aanalysis...
Mosaicism for FMR1 premutation (PM: 55–199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less severe fragile X syndrome (FXS) phenotype and tremor/ataxia (FXTAS)—a late onset neurodegenerative disorder. We describe 38 year old male carrying 100% methylated detected Southern blot (SB), which is consistent complete silencing diagnosis syndrome. However, his formal cognitive scores were not at most end FXS he displayed tremor...
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess feasibility and reliability population for FXS using pilot study one hospital. A total 1971 mothers consented 2000 newborns be tested routine NBS dried blood spot samples. DNA was extracted modified PCR assay with chimeric CGG primer used detect fragile alleles both males females normal, premutation, full...