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Angelman syndrome

Qiu-Jiong Zhao, Shao-Cong Bai, Cheng Cheng, Ben-Zhang Tao, Le-Kai Wang, Shuang Liang, Ling Yin, Xing-Yi Hang, Ai-Jia Shang
Copy number variations have been found in patients with neural tube abnormalities. In this study, we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents. Of eight copy number variations, four were non-polymorphic. These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes, and microcephaly. Gene function enrichment analysis revealed that COX8C, a gene associated with metabolic disorders of the nervous system, was located in the copy number variation region of Patient 1...
August 2016: Neural Regeneration Research
Gayane Aghakhanyan, Paolo Bonanni, Giovanna Randazzo, Sara Nappi, Federica Tessarotto, Lara De Martin, Francesca Frijia, Daniele De Marchi, Francesco De Masi, Beate Kuppers, Francesco Lombardo, Davide Caramella, Domenico Montanaro
Angelman syndrome (AS) is a rare neurogenetic disorder due to loss of expression of maternal ubiquitin-protein ligase E3A (UBE3A) gene. It is characterized by severe developmental delay, speech impairment, movement or balance disorder and typical behavioral uniqueness. Affected individuals show normal magnetic resonance imaging (MRI) findings, although mild dysmyelination may be observed. In this study, we adopted a quantitative MRI analysis with voxel-based morphometry (FSL-VBM) method to investigate disease-related changes in the cortical/subcortical grey matter (GM) structures...
2016: PloS One
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, Szabolcs Szelinger, Ana M Claasen, Ryan F Richholt, Matt De Both, Jason J Corneveaux, Chris Balak, Ignazio S Piras, Megan Russell, Amanda L Courtright, Sampath Rangasamy, Keri Ramsey, David W Craig, Vinodh Narayanan, Matt J Huentelman, Isabelle Schrauwen
Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome...
September 2016: Cold Spring Harbor Molecular Case Studies
Karin Buiting, Charles Williams, Bernhard Horsthemke
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity. Angelman syndrome results from loss of function of the imprinted UBE3A (ubiquitin-protein ligase E3A) gene on chromosome 15q11.2-q13. This loss of function can be caused by a mutation on the maternal allele, a 5-7 Mb deletion of the maternally inherited chromosomal region, paternal uniparental disomy of chromosome 15, or an imprinting defect...
October 2016: Nature Reviews. Neurology
Imran Jamal, Vipendra Kumar, Naman Vatsa, Brijesh Kumar Singh, Shashi Shekhar, Ankit Sharma, Nihar Ranjan Jana
Angelman syndrome (AS) is a neurodevelopmental disorder largely caused by the loss of function of maternally inherited UBE3A. UBE3A-maternal deficient mice (AS mice) exhibit many typical features of AS including cognitive and motor deficits but the underlying mechanism of these behavioral abnormalities is poorly understood. Here, we demonstrate that rearing of AS mice in the enriched environment for prolonged period significantly improved their cognitive and motor dysfunction. Enriched environment also restored elevated serum corticosterone level and reduced anxiety-like behaviors in these mice...
September 1, 2016: Molecular Neurobiology
Marcie Fitzgerald, Sara M Turner
This article reviews the case of an infant with Angelman syndrome, a genetic disorder caused by a chromosomal mutation. The patient's mother was concerned about his flat head and preference for turning his head to the right, which led to a referral and eventual correct diagnosis.
September 2016: JAAPA: Official Journal of the American Academy of Physician Assistants
Ricky S Joshi, Paras Garg, Noah Zaitlen, Tuuli Lappalainen, Corey T Watson, Nidha Azam, Daniel Ho, Xin Li, Stylianos E Antonarakis, Han G Brunner, Karin Buiting, Sau Wai Cheung, Bradford Coffee, Thomas Eggermann, David Francis, Joep P Geraedts, Giorgio Gimelli, Samuel G Jacobson, Cedric Le Caignec, Nicole de Leeuw, Thomas Liehr, Deborah J Mackay, Stephen B Montgomery, Alistair T Pagnamenta, Peter Papenhausen, David O Robinson, Claudia Ruivenkamp, Charles Schwartz, Bernhard Steiner, David A Stevenson, Urvashi Surti, Thomas Wassink, Andrew J Sharp
Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean...
September 1, 2016: American Journal of Human Genetics
Stephanie L Ciarlone, Joseph C Grieco, Dominic P D'Agostino, Edwin J Weeber
Angelman syndrome (AS) is a rare genetic and neurological disorder presenting with seizures, developmental delay, ataxia, and lack of speech. Previous studies have indicated that oxidative stress-dependent metabolic dysfunction may underlie the phenotypic deficits reported in the AS mouse model. While the ketogenic diet (KD) has been used to protect against oxidative stress and has successfully treated refractory epilepsy in AS case studies, issues arise due to its strict adherence requirements, in addition to selective eating habits and weight issues reported in patients with AS...
August 18, 2016: Neurobiology of Disease
Jia-Jun Qiu, Zhao-Rui Ren, Jing-Bin Yan
Epigenetics regulations have an important role in fertilization and proper embryonic development, and several human diseases are associated with epigenetic modification disorders, such as Rett syndrome, Beckwith-Wiedemann syndrome and Angelman syndrome. However, the dynamics and functions of long non-coding RNAs (lncRNAs), one type of epigenetic regulators, in human pre-implantation development have not yet been demonstrated. In this study, a comprehensive analysis of human and mouse early-stage embryonic lncRNAs was performed based on public single-cell RNA sequencing data...
August 16, 2016: Oncotarget
Jéssica Fernandes Dos Santos, Laís R Mota, Pedro Henrique Silva Andrade Rocha, Renata Lúcia L Ferreira de Lima
Prader-Willi (PWS) and Angelman (AS) syndromes are clinically distinct neurodevelopmental genetic diseases with multiple phenotypic manifestations. They are one of the most common genetic syndromes caused by non-Mendelian inheritance in the form of genomic imprinting, and can be attributable to the loss of gene expression due to imprinting within the chromosomal region 15q11-q13. Clinical diagnosis of PWS and AS is challenging, and the use of molecular and cytomolecular studies is recommended to help in determining the diagnosis of these conditions...
November 2016: Molecular Biology Reports
Monica Cubillos-Rojas, Taiane Schneider, Ouadah Hadjebi, Leonardo Pedrazza, Jarbas Rodrigues de Oliveira, Francina Langa, Jean-Louis Guénet, Joan Duran, Josep Maria de Anta, Soledad Alcántara, Rocio Ruiz, Eva María Pérez-Villegas, Francisco J Aguilar-Montilla, Ángel M Carrión, Jose Angel Armengol, Emma Baple, Andrew H Crosby, Ramon Bartrons, Francesc Ventura, Jose Luis Rosa
A mutation in the HERC2 gene has been linked to a severe neurodevelopmental disorder with similarities to the Angelman syndrome. This gene codifies a protein with ubiquitin ligase activity that regulates the activity of tumor protein p53 and is involved in important cellular processes such as DNA repair, cell cycle, cancer, and iron metabolism. Despite the critical role of HERC2 in these physiological and pathological processes, little is known about its relevance in vivo. Here, we described a mouse with targeted inactivation of the Herc2 gene...
August 12, 2016: Oncotarget
Jana Stanurova, Anika Neureiter, Michaela Hiber, Hannah de Oliveira Kessler, Kristin Stolp, Roman Goetzke, Diana Klein, Agnes Bankfalvi, Hannes Klump, Laura Steenpass
Genomic imprinting is an epigenetic phenomenon resulting in parent-of-origin-specific gene expression that is regulated by a differentially methylated region. Gene mutations or failures in the imprinting process lead to the development of imprinting disorders, such as Angelman syndrome. The symptoms of Angelman syndrome are caused by the absence of functional UBE3A protein in neurons of the brain. To create a human neuronal model for Angelman syndrome, we reprogrammed dermal fibroblasts of a patient carrying a defined three-base pair deletion in UBE3A into induced pluripotent stem cells (iPSCs)...
2016: Scientific Reports
Asher Ornoy, Liza Weinstein-Fudim, Zivanit Ergaz
Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal, and postnatal etiologies. In addition, ASD is often an important clinical presentation of some well-known genetic syndromes in human. We discuss these syndromes as well as the role of the more important prenatal factors affecting the fetus throughout pregnancy which may also be associated with ASD. Among the genetic disorders we find Fragile X, Rett syndrome, tuberous sclerosis, Timothy syndrome, Phelan-McDermid syndrome, Hamartoma tumor syndrome, Prader-Willi and Angelman syndromes, and a few others...
2016: Frontiers in Neuroscience
Bicheng Yang, Xinhua Tang, Jie Su, Hong Chen, Jinman Zhang, Yifei Yin, Yan Feng, Yinhong Zhang, Shu Zhu, Jie Zhang, Baosheng Zhu
OBJECTIVE: To establish a strategy for screening and diagnosing common microdeletion and microduplication syndromes among children with idiopathic mental retardation and development abnormalities. METHODS: Potential chromosomal variations among patients with unexplained mental retardation, cardiac anomalies, particular facial features, learning disabilities and other clinical characteristics were detected with bacterial artificial chromosome BACs-on-Beads (BoBs) technique and karyotyping...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Dinesh Singh Tekcham, Pramod Kumar Tiwari
DNA methylation, once considered to rule the sex determination in Mary Lyon's hypothesis, has now reached the epicenter of human diseases, from monogenic (e.g. Prader Willi syndrome, Angelman syndromes and Beckwith-Wiedemann syndrome) to polygenic diseases, like cancer. Technological developments from gold standard to high throughput technologies have made tremendous advancement to define the epigenetic mechanism of cancer. Gallbladder cancer (GBC) is a fatal health issue affecting mostly the middle-aged women, whose survival rate is very low due to late symptomatic diagnosis...
July 7, 2016: Asia-Pacific Journal of Clinical Oncology
Francesco M Galassi, Emanuele Armocida, Frank J Rühli
No abstract text is available yet for this article.
September 1, 2016: JAMA Pediatrics
Samantha Klassen, Brenden Dufault, Michael S Salman
Chronic ataxia is a relatively common symptom in children. There are numerous causes of chronic ataxia, making it difficult to derive a diagnosis in a timely manner. We hypothesized that the efficiency of the diagnostic process can be improved with systematic analysis of clinical features in pediatric patients with chronic ataxia. Our aim was to improve the efficiency of the diagnostic process in pediatric patients with chronic ataxia. A cohort of 184 patients, aged 0-16 years with chronic ataxia who received medical care at Winnipeg Children's Hospital during 1991-2008, was ascertained retrospectively from several hospital databases...
June 28, 2016: Cerebellum
Alain C Burette, Matthew C Judson, Susan Burette, Kristen D Phend, Benjamin D Philpot, Richard J Weinberg
Ubiquitination regulates a broad array of cellular processes, and defective ubiquitination is implicated in several neurological disorders. Loss of the E3 ubiquitin-protein ligase UBE3A causes Angelman syndrome. Despite its clinical importance, the normal role of UBE3A in neurons is still unclear. As a step toward deciphering its possible functions, we performed high-resolution light and electron microscopic immunocytochemistry. We report a broad distribution of UBE3A in neurons, highlighted by concentrations in axon terminals and euchromatin-rich nuclear domains...
June 23, 2016: Journal of Comparative Neurology
Craig A Erickson, Logan K Wink, Bayon Baindu, Balmiki Ray, Tori L Schaefer, Ernest V Pedapati, Debomoy K Lahiri
Angelman Syndrome is a rare neurodevelopmental disorder associated with significant developmental and communication delays, high risk for epilepsy, motor dysfunction, and a characteristic behavioral profile. While Angelman Syndrome is known to be associated with the loss of maternal expression of the ubiquitin-protein ligase E3A gene, the molecular sequelae of this loss remain to be fully understood. Amyloid precursor protein (APP) is involved in neuronal development and APP dysregulation has been implicated in the pathophysiology of other developmental disorders including fragile X syndrome and idiopathic autism...
September 2016: American Journal of Medical Genetics. Part A
Line Granild Bie Mertz, Rikke Christensen, Ida Vogel, Jens Michael Hertz, John R Østergaard
BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter. AIMS: We investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes. METHODS: This study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH microarray (1×1M Agilent). Clinical data were based on a parent interview and medical record review...
September 2016: Research in Developmental Disabilities
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