keyword
https://read.qxmd.com/read/38520260/undiagnosed-rare-disease-clinic-identifies-a-novel-ube3a-variant-in-two-sisters-with-angelman-syndrome-the-end-of-a-diagnostic-odyssey
#1
JOURNAL ARTICLE
Rebecca Bruns, Khurram Liaqat, Abdul Nasir, Kayla Treat, Vinaya S Murthy, Lili Mantcheva, Wilfredo Torres, Erin Conboy, Francesco Vetrini
Angelman syndrome (AS, MIM #105830) is a neurodevelopmental disorder characterized by severe intellectual disability, profound developmental delay, movement or balance problems, an excessively cheerful disposition, and seizures. AS results from inadequate expression of the maternal UBE3A gene (MIM #601623), which encodes an E3 ligase in the ubiquitin-proteasome pathway. Here we present the case of two sisters with features consistent with AS who had negative methylation analyses. An autism/intellectual disability expanded panel revealed a maternally inherited novel UBE3A (NM_001354506...
March 23, 2024: Congenital Anomalies
https://read.qxmd.com/read/38479041/factors-associated-with-sleep-disturbances-in-children-and-adolescents-with-angelman-syndrome
#2
JOURNAL ARTICLE
Geraldine Leader, Chloe Killeen, Sally Whelan, Rory Coyne, Megan Tones, Arlene Mannion
BACKGROUND: Angelman Syndrome (AS) is a rare genetic disorder characterised by hyperactivity, overexcitability, developmental delays, and lack of speech. METHODS: This study used secondary data analysis to investigate sleep disturbances in children and adolescents (n = 212) who are enrolled in the Global Angelman Syndrome Registry. Participants were divided into two groups based on the presence or absence of sleep disturbance. The cut-off score of 40 on the Sleep Disturbance Scale for Children was used to indicate the presence or absence of sleep disturbances...
March 7, 2024: Sleep Medicine
https://read.qxmd.com/read/38429713/outcome-measures-in-angelman-syndrome
#3
JOURNAL ARTICLE
Doesjka A Hagenaar, Karen G C B Bindels-de Heus, Maud M van Gils, Louise van den Berg, Leontine W Ten Hoopen, Philine Affourtit, Johan J M Pel, Koen F M Joosten, Manon H J Hillegers, Henriëtte A Moll, Marie-Claire Y de Wit, Gwen C Dieleman, Sabine E Mous
BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children's functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials...
March 1, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38411239/the-multiple-odysseys-in-research-and-clinical-care-for-neurogenetic-conditions
#4
JOURNAL ARTICLE
Anne C Wheeler
Neurogenetic conditions (NGC; e.g., fragile X, Angelman, Prader-Willi syndromes) represent the cause for intellectual or developmental disabilities in up to 60% of cases. With expanded diagnostic options and an increasing focus on the development of gene therapies comes the potential of improved quality of life for individuals with NGCs and their families. However, these emerging initiatives also bring new challenges and considerations for NGC researchers and clinicians, including considerations for supporting caregivers and assuring outcome measures for clinical trials adequately reflect the lived experiences of people with NGCs...
March 1, 2024: American Journal on Intellectual and Developmental Disabilities
https://read.qxmd.com/read/38398047/does-sperm-snrpn-methylation-change-with-fertility-status-and-age-a-systematic-review-and-meta-regression-analysis
#5
REVIEW
Claudia Leanza, Rossella Cannarella, Federica Barbagallo, Carmelo Gusmano, Aldo E Calogero
Background: The Small Nuclear Ribonucleoprotein Polypeptide N ( SNRPN ) gene is a paternally expressed imprinted gene, whose abnormal methylation appears to be associated with syndromes associated with the use of assisted reproductive techniques (ART), such as Angelman and Prader-Willi. Data present in the literature suggest the association between aberrant sperm SNRPN gene methylation and abnormal sperm parameters. The latest meta-analysis on the methylation pattern of this gene in spermatozoa of infertile patients published in 2017 reported a higher degree of methylation in the spermatozoa of infertile patients compared to fertile controls...
February 16, 2024: Biomedicines
https://read.qxmd.com/read/38347515/a-supervised-learning-method-for-classifying-methylation-disorders
#6
JOURNAL ARTICLE
Jesse R Walsh, Guangchao Sun, Jagadheshwar Balan, Jayson Hardcastle, Jason Vollenweider, Calvin Jerde, Kandelaria Rumilla, Christy Koellner, Alaa Koleilat, Linda Hasadsri, Benjamin Kipp, Garrett Jenkinson, Eric Klee
BACKGROUND: DNA methylation is one of the most stable and well-characterized epigenetic alterations in humans. Accordingly, it has already found clinical utility as a molecular biomarker in a variety of disease contexts. Existing methods for clinical diagnosis of methylation-related disorders focus on outlier detection in a small number of CpG sites using standardized cutoffs which differentiate healthy from abnormal methylation levels. The standardized cutoff values used in these methods do not take into account methylation patterns which are known to differ between the sexes and with age...
February 12, 2024: BMC Bioinformatics
https://read.qxmd.com/read/38327047/prenatal-delivery-of-a-therapeutic-antisense-oligonucleotide-achieves-broad-biodistribution-in-the-brain-and-ameliorates-angelman-syndrome-phenotype-in-mice
#7
JOURNAL ARTICLE
Maria T Clarke, Laura Remesal, Lea Lentz, Danielle J Tan, David Young, Slesha Thapa, Shalini Namduri, Beltran Borges, Georgia Kirn, Jasmine Valencia, Manuel E Lopez, Jan H Lu, Lawrence R Shiow, Scott Dindot, Saul Villeda, Stephan J Sanders, Tippi C MacKenzie
Angelman Syndrome, an early-onset neurodevelopmental disorder characterized by abnormal gait, intellectual disabilities, and seizures, occurs when the maternal allele of the UBE3A gene is disrupted, since the paternal allele is silenced in neurons by the UBE3A antisense (UBE3A-AS) transcript. Given the importance of early treatment, we hypothesized that prenatal delivery of an antisense oligonucleotide (ASO) would downregulate the murine Ube3a-AS, resulting in increased UBE3A protein and functional rescue. Using a mouse model with a Ube3a-YFP allele that reports on-target ASO activity, we found that in utero, intracranial injection of the ASO resulted in dose-dependent activation of paternal Ube3a, with broad biodistribution...
February 6, 2024: Molecular Therapy
https://read.qxmd.com/read/38322471/genetic-investigation-of-the-ubiquitin-protein-ligase-e3a-gene-as-putative-target-in-angelman-syndrome
#8
JOURNAL ARTICLE
Wiem Manoubi, Marwa Mahdouani, Dorra Hmida, Ameni Kdissa, Aida Rouissi, Ilhem Turki, Neji Gueddiche, Najla Soyah, Ali Saad, Christian Bouwkamp, Ype Elgersma, Soumaya Mougou-Zerelli, Moez Gribaa
BACKGROUND: Angelman syndrome (AS) is caused by maternal chromosomal deletions, imprinting defects, paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations. However the genetic basis remains unclear for several patients. AIM: To investigate the involvement of UBE3A gene in AS and identifying new potential genes using exome sequencing. METHODS: We established a cohort study in 50 patients referred to Farhat Hached University Hospital between 2006 and 2021, with a strong suspicion of AS and absence of chromosomal aberrations...
January 26, 2024: World Journal of Clinical Cases
https://read.qxmd.com/read/38298296/a-rare-cause-of-intellectual-disability
#9
Íris Oliveira, Andreia Fernandes, Mafalda Pereira, Márcia Rodrigues, Noémia Silva, Carla Mendonça
A seven-year-old female was followed in a developmental clinic from the age of nine months due to delayed psychomotor development. The first physical examination showed a newborn with irritability and a large anterior fontanelle. A transfontanellar ultrasound was performed, revealing mild enlargement of the lateral and third ventricles. Head circumference remained below the third percentile until the age of five months, then rose to the third percentile. Developmental milestones were globally delayed, with expressive language being more severely affected and axial hypotonia with appendicular hypertonia on neurological examination...
January 2024: Curēus
https://read.qxmd.com/read/38248358/ube3a-the-role-in-autism-spectrum-disorders-asds-and-a-potential-candidate-for-biomarker-studies-and-designing-therapeutic-strategies
#10
REVIEW
Bidisha Roy, Enyonam Amemasor, Suhail Hussain, Kimberly Castro
Published reports from the CDC's Autism and Development Disabilities Monitoring Networks have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to have ASD in 2018. Many of the ASDs exhibiting varying degrees of autism-like phenotypes have chromosomal anomalies in the Chr15q11-q13 region. Numerous potential candidate genes linked with ASD reside in this chromosomal segment. However, several clinical, in vivo, and in vitro studies selected one gene more frequently than others randomly and unbiasedly...
December 27, 2023: Diseases (Basel)
https://read.qxmd.com/read/38217951/neural-hyperexcitability-in-angelman-syndrome-genetic-factors-and-pharmacologic-treatment-approaches
#11
REVIEW
Paul J Fitzgerald
Angelman syndrome (AS) is a rare neurodevelopmental disorder that is typically caused by deletion or a loss-of-function mutation of the maternal copy of the ubiquitin ligase E3A (UBE3A) gene. The disorder is characterized by severe intellectual disability, deficits in speech, motor abnormalities, altered electroencephalography (EEG) activity, spontaneous epileptic seizures, sleep disturbances, and a happy demeanor with frequent laughter. Regarding electrophysiologic abnormalities in particular, enhanced delta oscillatory power and an elevated excitatory/inhibitory (E/I) ratio have been documented in AS, with E/I ratio especially studied in rodent models...
January 5, 2024: Epilepsy Research
https://read.qxmd.com/read/38136660/epileptic-encephalopathy-gabrb-structural-variants-share-common-gating-and-trafficking-defects
#12
JOURNAL ARTICLE
Ciria C Hernandez, Ningning Hu, Wangzhen Shen, Robert L Macdonald
Variants in the GABRB gene, which encodes the β subunit of the GABAA receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are often associated with early-onset seizures, developmental regression, and cognitive impairments. The severity and specific features of these encephalopathies can differ based on the nature of the genetic variant and its impact on GABAA receptor function. These variants can lead to dysfunction in GABAA receptor-mediated inhibition, resulting in an imbalance between neuronal excitation and inhibition that contributes to the development of seizures...
December 14, 2023: Biomolecules
https://read.qxmd.com/read/38111102/parents-preferences-for-receiving-and-discussing-prognostic-genetic-information-regarding-their-children-s-neurodevelopmental-condition-a-qualitative-study
#13
JOURNAL ARTICLE
Erin Turbitt, Meg Bourne, Alison McEwen, David J Amor
AIM: To investigate parents' preferences and motivations for receiving and discussing prognostic genetic test results. METHOD: We used a cross-sectional, interpretive description qualitative study design. We collected data through semi-structured interviews with Australian parents, which we analysed using reflexive thematic analysis. RESULTS: Parents (n = 32) had a child or children with a genetic neurodevelopmental condition, such as fragile X syndrome, DiGeorge (22q11...
December 18, 2023: Developmental Medicine and Child Neurology
https://read.qxmd.com/read/38101713/azadiradione-up-regulates-the-expression-of-parvalbumin-and-bdnf-via-ube3a
#14
JOURNAL ARTICLE
Sudipta Jana, Bhaskarjyoti Giri, Sagarika Das, Anirban Manna, Subhash C Mandal, Nihar Ranjan Jana
Azadiradione is a small bioactive limonoid found in the seed of Azadirachta Indica, an Indian medicinal plant commonly known as Neem. Recently, it has been shown to ameliorate the disease pathology in fly and mouse model of Huntington's disease by restoring impaired proteostasis. Here we report that the azadiradione could be involved in modulating the synaptic function through increased expression of Ube3a, a dual function protein having ubiquitin ligase and co-activator functions and associated with Angelman syndrome and autism...
December 13, 2023: Gene
https://read.qxmd.com/read/38009976/child-characteristics-associated-with-child-quality-of-life-and-parenting-stress-in-angelman-syndrome
#15
JOURNAL ARTICLE
D A Hagenaar, K G C B Bindels-de Heus, K Lubbers, L W Ten Hoopen, A B Rietman, P F A de Nijs, M H J Hillegers, H A Moll, M C Y de Wit, G C Dieleman, S E Mous
BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised by severe intellectual disability, movement disorder, epilepsy, sleeping problems, and behavioural issues. Little is known on child health-related quality of life (HRQoL) in AS. AS family studies have reported elevated parenting stress and a high impact of the child's syndrome on the parent. It is unclear which factors influence child HRQoL and parenting stress/impact in AS. METHODS: We collected data prospectively through standardised clinical assessments of children with AS at the ENCORE Expertise centre for Angelman Syndrome at the Erasmus MC Sophia Children's Hospital...
November 27, 2023: Journal of Intellectual Disability Research: JIDR
https://read.qxmd.com/read/38006466/relationship-between-strabismus-associated-with-angelman-syndrome-and-orbital-anomaly
#16
JOURNAL ARTICLE
Ayaka Yagasaki, Kiyofumi Mochizuki, Teiji Yagasaki, Hirokazu Sakaguchi
PURPOSE: To investigate the relationship between the details of strabismus and orbital abnormalities determined by ocular motility tests and orbital imaging examinations in 9 cases with Angelman syndrome (AS). STUDY DESIGN: A retrospective, clinical report. METHODS: The 9 AS cases (mean age at initial visit: 4.6 ± 8.0 years) were confirmed by genetic diagnosis of the chromosome 15q11-13 region. In all cases, axial imaging of the orbit in the transverse plane of the horizontal extraocular muscles was obtained...
January 2024: Japanese Journal of Ophthalmology
https://read.qxmd.com/read/38001870/melatonin-in-neurodevelopmental-disorders-a-critical-literature-review
#17
REVIEW
Cyrille Feybesse, Sylvie Chokron, Sylvie Tordjman
The article presents a review of the relationships between melatonin and neurodevelopmental disorders. First, the antioxidant properties of melatonin and its physiological effects are considered to understand better the role of melatonin in typical and atypical neurodevelopment. Then, several neurodevelopmental disorders occurring during infancy, such as autism spectrum disorder or neurogenetic disorders associated with autism (including Smith-Magenis syndrome, Angelman syndrome, Rett's syndrome, Tuberous sclerosis, or Williams-Beuren syndrome) and neurodevelopmental disorders occurring later in adulthood like bipolar disorder and schizophrenia, are discussed with regard to impaired melatonin production and circadian rhythms, in particular, sleep-wake rhythms...
November 20, 2023: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/37994169/light-activates-ube3a-an-angelman-syndrome-associated-gene-by-mediating-the-chromatin-structures-during-postnatal-development-of-mouse-retina
#18
JOURNAL ARTICLE
Chao-Wen Lin, Yi-Chun Cheng, Chang-Hao Yang, Hsien-Sung Huang
Angelman syndrome, a severe neurodevelopmental disorder, is primarily caused by mutations or deletions of maternally inherited ubiquitin protein ligase E3A (UBE3A). Activation of the silenced paternal copy of UBE3A can occur with pharmacological perturbation; however, an environmental approach has not been examined. Here, we found Ube3a is highly expressed in embryonic and early neonatal mouse retina and is maternally-, but not paternally-, expressed in ganglion cells, amacrine cells, and horizontal cells. Moreover, we analyzed UBE3A expression in the retina and visual cortex of postnatal day 28 mice (P28) following exposure to light emissions from white compact-fluorescent bulbs or blue light-emitting diodes from postnatal day 0 (P0) to 28 (P28), encompassing a crucial phase of visual system development...
November 22, 2023: Journal of Neurochemistry
https://read.qxmd.com/read/37989651/translational-research-for-the-development-of-treatment-of-patients-with-neurogenetic-diseases-an-important-step-for-angelman-syndrome
#19
EDITORIAL
Bernard Dan
No abstract text is available yet for this article.
November 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/37958807/structural-variation-evolution-at-the-15q11-q13-disease-associated-locus
#20
JOURNAL ARTICLE
Annalisa Paparella, Alberto L'Abbate, Donato Palmisano, Gerardina Chirico, David Porubsky, Claudia R Catacchio, Mario Ventura, Evan E Eichler, Flavia A M Maggiolini, Francesca Antonacci
The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot of recurrent copy number variation associated with Prader-Willi/Angelman syndromes, developmental delay, autism, and epilepsy and is mediated by complex segmental duplications, many of which arose recently during evolution. To gain insight into the instability of this region, we characterized its architecture in human and nonhuman primates, reconstructing the evolutionary history of five different inversions that rearranged the region in different species primarily by accumulation of segmental duplications...
October 31, 2023: International Journal of Molecular Sciences
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