Cargando…

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease in FMR1 mRNA and its protein (FMRP), incomplete silencing has been associated with more severe autism features in FXS males. This study repor...

Descripción completa

Detalles Bibliográficos
Autores principales:	Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K., Aliaga, Solange M., Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G., Palmer, Elizabeth E., Amor, David J., Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721168/ https://www.ncbi.nlm.nih.gov/pubmed/31405222 http://dx.doi.org/10.3390/ijms20163907

Ejemplares similares

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
por: Pandelache, Alison, et al.
Publicado: (2019)

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
por: Arpone, Marta, et al.
Publicado: (2018)

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia
por: Hwang, Yun Tae, et al.
Publicado: (2016)

Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68
por: Hwang, Yun Tae, et al.
Publicado: (2017)

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
por: Baker, Emma K., et al.
Publicado: (2019)

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome
por: Mailick, Marsha R., et al.
Publicado: (2018)

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
por: Baker, Emma K., et al.
Publicado: (2018)

FMR1 mRNA from full mutation alleles is associated with ABC-C(FX) scores in males with fragile X syndrome
por: Baker, Emma K., et al.
Publicado: (2020)

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles
por: Kraan, C. M., et al.
Publicado: (2016)

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
por: Tassone, Flora, et al.
Publicado: (2023)

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing
por: Hensel, Charles H., et al.
Publicado: (2019)

Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation
por: McKenzie, Forrest J., et al.
Publicado: (2020)

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
por: Chonchaiya, Weerasak, et al.
Publicado: (2010)

Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome
por: Famula, Jessica, et al.
Publicado: (2022)

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
por: Baker, Emma K., et al.
Publicado: (2019)

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome
por: Kraan, Claudine M, et al.
Publicado: (2020)

FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
por: Martínez‐Cerdeño, Verónica, et al.
Publicado: (2017)

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
por: Godler, David E., et al.
Publicado: (2023)

Associated features in females with an FMR1 premutation
por: Wheeler, Anne C, et al.
Publicado: (2014)

Developmental profiles of infants with an FMR1 premutation
por: Wheeler, Anne C., et al.
Publicado: (2016)

Sensory Difficulties in Children With an FMR1 Premutation
por: Raspa, Melissa, et al.
Publicado: (2018)

Metabolic Alterations in FMR1 Premutation Carriers
por: Cao, Yiqu, et al.
Publicado: (2020)

Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency
por: Wheeler, Anne C., et al.
Publicado: (2014)

Fragile X Premutation
por: Tassone, Flora, et al.
Publicado: (2014)

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation
por: Grigsby, Jim, et al.
Publicado: (2014)

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females
por: Shelton, A L, et al.
Publicado: (2016)

Tophaceous gout of the nose in a male FMR1 premutation carrier
por: Tang, Si Jie, et al.
Publicado: (2022)

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings
por: Hadd, Andrew G., et al.
Publicado: (2016)

The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles
por: Yrigollen, Carolyn M., et al.
Publicado: (2011)

Developmental aspects of FXAND in a man with the FMR1 premutation
por: Santos, Ellery, et al.
Publicado: (2020)

FMRpolyG accumulates in FMR1 premutation granulosa cells
por: Friedman-Gohas, M., et al.
Publicado: (2020)

Sensorimotor and inhibitory control in aging FMR1 premutation carriers
por: Fielding-Gebhardt, Heather, et al.
Publicado: (2023)

Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10
por: Marek, Diana, et al.
Publicado: (2012)

Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers
por: Wang, Zheng, et al.
Publicado: (2019)

Cardiovascular Problems in the Fragile X Premutation
por: Tassanakijpanich, Nattaporn, et al.
Publicado: (2020)

FMR1 premutation and full mutation molecular mechanisms related to autism
por: Hagerman, Randi, et al.
Publicado: (2011)

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers
por: Giulivi, Cecilia, et al.
Publicado: (2016)

Age-related functional brain changes in FMR1 premutation carriers
por: Brown, Stephanie S.G., et al.
Publicado: (2017)

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins
por: Napoli, Eleonora, et al.
Publicado: (2018)

Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers
por: McKinney, Walker S., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_ks6g5htu4acsv9tnlnom1i191d