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Angelman syndrome

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https://www.readbyqxmd.com/read/29250725/angelman-syndrome-due-to-ube3a-gene-mutation
#1
Jyotindra Narayan Goswami, Jitendra Kumar Sahu, Pratibha Singhi
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis...
December 18, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29225531/mom-genes-a-role-for-loss-of-maternal-ube3a-in-gabaergic-neurons-in-angelman-syndrome
#2
COMMENT
Catherine A Christian
No abstract text is available yet for this article.
July 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29188609/-clinical-and-genetic-analysis-of-two-unrelated-patients-with-angelman-syndrome-and-novel-ube3a-mutations
#3
Huihui Xu, Xing Ji, Yan Xu, Xiaoqing Liu, Jingmin Zhang, Yingwei Chen, Bing Xiao
OBJECTIVE: To explore the genetic cause for two familial Angelman syndrome cases and correlation between the clinical phenotypes and their genetic basis. METHODS: Karyotyping analysis and microarray assay were carried out to exclude chromosome anomalies and uniparental disomy. The UBE3A gene was analyzed for potential point mutations, deletions, insertions and splice site mutations. Reverse transcription PCR was used to evaluate splicing mutation of the RNA transcripts...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29168388/primer-in-genetics-and-genomics-article-6-basics-of-epigenetic-control
#4
Kristen L Fessele, Fay Wright
The epigenome is a collection of chemical compounds that attach to and overlay the DNA sequence to direct gene expression. Epigenetic marks do not alter DNA sequence but instead allow or silence gene activity and the subsequent production of proteins that guide the growth and development of an organism, direct and maintain cell identity, and allow for the production of primordial germ cells (PGCs; ova and spermatozoa). The three main epigenetic marks are (1) histone modification, (2) DNA methylation, and (3) noncoding RNA, and each works in a different way to regulate gene expression...
January 1, 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/29162042/novel-intragenic-deletions-within-the-ube3a-gene-in-two-unrelated-patients-with-angelman-syndrome-case-report-and-review-of-the-literature
#5
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
BACKGROUND: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. CASE PRESENTATION: We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29097328/lovastatin-suppresses-hyperexcitability-and-seizure-in-angelman-syndrome-model
#6
Leeyup Chung, Alexandra L Bey, Aaron J Towers, Xinyu Cao, Il Hwan Kim, Yong-Hui Jiang
Epilepsy is prevalent and often medically intractable in Angelman syndrome (AS). AS mouse model (Ube3a(m-/p+)) shows reduced excitatory neurotransmission but lower seizure threshold. The neural mechanism linking the synaptic dysfunction to the seizure remains elusive. We show that the local circuits of Ube3a(m-/p+)in vitro are hyperexcitable and display a unique epileptiform activity, a phenomenon that is reminiscent of the finding in fragile X syndrome (FXS) mouse model. Similar to the FXS model, lovastatin suppressed the epileptiform activity and audiogenic seizures in Ube3a(m-/p+)...
October 31, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29037196/unmet-clinical-needs-and-burden-in-angelman-syndrome-a-review-of-the-literature
#7
REVIEW
Anne C Wheeler, Patricia Sacco, Raquel Cabo
BACKGROUND: Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. MAIN TEXT: A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden...
October 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#8
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B Van Den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management...
October 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#9
Emily A Abel, Bridgette L Tonnsen
BACKGROUND: Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#10
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28944563/a-randomized-controlled-trial-of-levodopa-in-patients-with-angelman-syndrome
#11
Wen-Hann Tan, Lynne M Bird, Anjali Sadhwani, Rene L Barbieri-Welge, Steven A Skinner, Lucia T Horowitz, Carlos A Bacino, Lisa M Noll, Cary Fu, Rachel J Hundley, Logan K Wink, Craig A Erickson, Gregory N Barnes, Anne Slavotinek, Rita Jeremy, Alexander Rotenberg, Sanjeev V Kothare, Heather E Olson, Annapurna Poduri, Mark P Nespeca, Hillary C Chu, Jennifer M Willen, Kevin F Haas, Edwin J Weeber, Paul A Rufo
Treatment for Angelman syndrome (AS) is currently limited to symptomatic interventions. A mouse model of AS has reduced calcium/calmodulin-dependent kinase II activity due to excessive phosphorylation of specific threonine residues, leading to diminished long-term potentiation. In a rat model of Parkinson disease, levodopa reduced phosphorylation of various proteins, including calcium/calmodulin-dependent kinase II. Further studies demonstrated that AS mice treated with levodopa performed better on rotarod testing than untreated AS mice...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28931574/enhanced-nociception-in-angelman-syndrome-model-mice
#12
Eric S McCoy, Bonnie Taylor-Blake, Megumi Aita, Jeremy M Simon, Benjamin D Philpot, Mark J Zylka
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutation or deletion of the maternal UBE3A allele. The maternal UBE3A allele is expressed in nearly all neurons of the brain and spinal cord, whereas the paternal UBE3A allele is repressed by an extremely long antisense transcript (UBE3A-ATS). Little is known about expression of UBE3A in the peripheral nervous system, where loss of maternal UBE3A might contribute to AS phenotypes. Here we sought to examine maternal and paternal Ube3a expression in DRGs neurons and to evaluate whether nociceptive responses were affected in AS model mice (global deletion of maternal Ube3a allele; Ube3a(m-/p+))...
October 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#13
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine M LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
September 19, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#14
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan, Natalie Canham
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing)...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#15
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
https://www.readbyqxmd.com/read/28890050/modulation-of-hippocampal-synapse-maturation-by-activity-regulated-e3-ligase-via-non-canonical-pathway
#16
Pushpa Kumari, Balakumar Srinivasan, Sourav Banerjee
Development of functional synapses is crucial for the transmission and storage of information in the brain. Post establishment of the initial synaptic contact, synapses are stabilized through neuronal activity-induced signals. Emerging studies have implicated ubiquitination; a reversible posttranslational modification, as a key regulatory switch that modulates synapse development through proteasomal degradation. Ubiquitination of proteins is precisely regulated by E3 ligases, a set of enzymes that bind to specific substrates to facilitate the conjugation of monomeric or polymeric ubiquitin...
November 19, 2017: Neuroscience
https://www.readbyqxmd.com/read/28888943/melanin-concentrating-hormone-modulates-oxytocin-mediated-marble-burying
#17
Nayna M Sanathara, Celia Garau, Amal Alachkar, Lien Wang, Zhiwei Wang, Katsuhiko Nishimori, Xiangmin Xu, Olivier Civelli
Repetitive and perseverative behaviors are common features of a number of neuropsychiatric diseases such as Angelman's syndrome, Tourette's syndrome, obsessive-compulsive disorder, and autism spectrum disorders. The oxytocin system has been linked to the regulation of repetitive behavior in both animal models and humans, but many of its downstream targets have still to be found. We report that the melanin-concentrating hormone (MCH) system is a target of the oxytocin system in regulating one repetitive behavior, marble burying...
September 6, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28877039/left-ventricular-dysfunction-in-a-patient-with-angelman-syndrome
#18
Adam W Powell, Michael D Taylor, Robert J Hopkin, Juli Sublett, John L Jefferies
No abstract text is available yet for this article.
September 4, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28869323/main-causes-of-hospitalization-in-people-with-angelman-syndrome
#19
M Felícitas Domínguez-Berjón, Ana Clara Zoni, María D Esteban-Vasallo, Juan Manuel Sendra-Gutiérrez, Jenaro Astray-Mochales
BACKGROUND: The objective was to describe the main causes of hospitalization in people with Angelman syndrome (AS). METHOD: Population-based cross-sectional study in the Community of Madrid (CM), Spain. The information source for AS cases was the information system for rare diseases in the CM. Variables related to hospitalization, for the period 2006-2014, were the following: number of episodes, outcome, main cause, length of stay and type of admission. Main causes of hospitalization were described by age group and sex...
September 4, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28844022/sleep-in-children-with-angelman-syndrome-parental-concerns-and-priorities
#20
Jayne Trickett, Mary Heald, Chris Oliver
Angelman syndrome is a rare genetic syndrome, in which sleep disturbances are reported for 20-80% of individuals (Williams et al., 2006). This interview study delineated parental perceptions of sleep problems experienced by children with Angelman syndrome and the impact on parental sleep quality, health and wellbeing. The nature of desired interventions was also explored. Semi-structured interviews were completed with parents of 50 children, aged 16 months-15 years with Angelman syndrome who experienced current or historic sleep problems; predominantly night waking and settling problems...
August 24, 2017: Research in Developmental Disabilities
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