Cargando…

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood. Although initial genetic findings helped make a correct fragile X syndrome (FXS) determination, the report was insufficient. Ten years...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shieh, Meg, Amkraut, Keren, Spiridigliozzi, Gail A., Adayev, Tatyana, Nicholson, Kaylea, McConkie‐Rosell, Allyn, McDonald, Marie, Pennington, Malinda, Sebastian, Siby, Lachiewicz, Ave M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290186/ https://www.ncbi.nlm.nih.gov/pubmed/37361657 http://dx.doi.org/10.1002/ccr3.7371

Ejemplares similares

Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome
por: Chadman, Kathryn K., et al.
Publicado: (2023)

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety
por: Klusek, Jessica, et al.
Publicado: (2017)

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
por: Budimirovic, Dejan B., et al.
Publicado: (2020)

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
por: Moss, Tonya, et al.
Publicado: (2021)

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
por: Tan, Queenie K.-G., et al.
Publicado: (2017)

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1
por: Schoch, Kelly, et al.
Publicado: (2023)

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation
por: de Esch, Celine E.F., et al.
Publicado: (2014)

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
por: Schoch, Kelly, et al.
Publicado: (2020)

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
por: Spillmann, Rebecca C., et al.
Publicado: (2017)

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations
por: Brykczynska, Urszula, et al.
Publicado: (2016)

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)
por: LaFauci, Giuseppe, et al.
Publicado: (2016)

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

Maintaining the unmethylated state
por: Smith, Steven S
Publicado: (2013)

Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome
por: Mor-Shaked, Hagar, et al.
Publicado: (2018)

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
por: Alvarez-Mora, Maria Isabel, et al.
Publicado: (2022)

Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range
por: Klusek, Jessica, et al.
Publicado: (2018)

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative
por: Shashi, Vandana, et al.
Publicado: (2018)

Pirenperone relieves the symptoms of fragile X syndrome in Fmr1 knockout mice
por: Kim, Yujeong, et al.
Publicado: (2022)

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network
por: Palmer, Christina G. S., et al.
Publicado: (2018)

Best Practices in Fragile X Syndrome Treatment Development
por: Erickson, Craig A., et al.
Publicado: (2018)

Veliparib in combination with radiotherapy for the treatment of MGMT unmethylated glioblastoma
por: Jue, Toni Rose, et al.
Publicado: (2017)

Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders
por: Usdin, Karen, et al.
Publicado: (2015)

Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells
por: Haenfler, Jill M., et al.
Publicado: (2018)

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
por: Nobile, Veronica, et al.
Publicado: (2021)

Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge
por: Xu, Qiong, et al.
Publicado: (2016)

Engineering Clostridium Strain to Accept Unmethylated DNA
por: Dong, Hongjun, et al.
Publicado: (2010)

Testing the FMR1 Promoter for Mosaicism in DNA Methylation among CpG Sites, Strands, and Cells in FMR1-Expressing Males with Fragile X Syndrome
por: Stöger, Reinhard, et al.
Publicado: (2011)

Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
por: Allen, Emily Graves, et al.
Publicado: (2021)

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)

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
por: Usdin, Karen, et al.
Publicado: (2014)

Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome†
por: Tabolacci, Elisabetta, et al.
Publicado: (2016)

Impaired hippocampal representation of place in the Fmr1-knockout mouse model of fragile X syndrome
por: Arbab, Tara, et al.
Publicado: (2018)

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

Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene
por: Vafaeie, Farzane, et al.
Publicado: (2021)

Fragile X protein in newborn dried blood spots
por: Adayev, Tatyana, et al.
Publicado: (2014)

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
por: Alisch, Reid S, et al.
Publicado: (2013)

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)

Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model
por: Naviaux, Jane C, et al.
Publicado: (2015)

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells
por: Avitzour, Michal, et al.
Publicado: (2014)

Inhibitors of Histone Deacetylases Are Weak Activators of the FMR1 Gene in Fragile X Syndrome Cell Lines
por: Dolskiy, Alexander A., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_6rd3p86paj666t217urepqlf4u