PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders

Publication date: Available online 4 December 2019Source: Genomics, Proteomics &BioinformaticsAuthor(s): Guan Ning Lin, Sijia Guo, Xian Tan, Weidi Wang, Wei Qian, Weichen Song, Jingru Wang, Shunying Yu, Zhen Wang, Donghong Cui, Han WangAbstractDe novo variants (DNVs) are one of the most significant contributors to severe early-onset genetic disorders such as autism spectrum disorder, intellectual disability, and other developmental and neuropsychiatric (DNP) disorders. Presently, a plethora of DNVs have been identified using next-generation sequencing, and many efforts have been made to understand their impact at the gene level. However, there has been little exploration of the effects at the isoform level. The brain contains a high level of alternative splicing and regulation, and exhibits a more divergent splicing program than other tissues. Therefore, it is crucial to explore variants at the transcriptional regulation level to better interpret the mechanisms underlying DNP disorders. To facilitate a better usage and improve the isoform-level interpretation of variants, we developed NeuroPsychiatric Mutation Knowledge Base (PsyMuKB). It contains a comprehensive, carefully curated list of DNVs with transcriptional and translational annotations to enable identification of isoform-specific mutations. PsyMuKB allows a flexible search of genes or variants and provides both table-based descriptions and associated visualizations, such as expression, transcript genomic structur...
Source: Genomics, Proteomics and Bioinformatics - Category: Bioinformatics Source Type: research

Related Links:

ConclusionsPractitioners should consider use of less restrictive or intrusive interventions to promote food acceptance and the use of larger sets of foods, modified to include fewer foods in the case of poor response to intervention.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Autism spectrum disorder is a complex neurodevelopmental condition that is likely caused by both genetic and environmental factors. As the name suggests, it also represents a range of symptoms and behaviors, all of which makes teasing apart the genes involved quite challenging. In a study published Jan. 23 in Cell, researchers led by Joseph Buxbaum, director of the Seaver Autism Center for Research and Treatment at Mount Sinai, took advantage of better genetic sequencing technologies and one of the largest databases of DNA samples from people with autism to identify 102 genes associated with autism, including 30 that had n...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Autism Brain Genetics Source Type: news
This themed visit report looks at support for people with autism. It focuses on one of the most vulnerable groups with this diagnosis: people with autism and learning disability or other complex...
Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
This guidance identifies the principles relevant to victims and witnesses with mental health conditions or disorders, namely: A mental disorder, as defined by the 2 External 0 0 0Mental Health Act 2007 false https://www.legislation.gov.uk/ukpga/2007/12/section/1 true false%> A learning disability A learning difficulty Autism Spectrum Disorder An acquired brain injury Dementia Other mental health, cognitive or neuro-diverse conditions. Further information about such conditions can be found at Annex A. This guidance therefore seeks to address a span of conditions which comprise disorders, disabilities, impairments, inj...
Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
AbstractCHD8, which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutations have been reported in subjects with variable phenotypes, but little is known concerning genotype –phenotype correlations. We have identified four novel de novo mutations in Chinese subjects: two nonsense variants (c.3562C>T/p.Arg1188X, c.2065C>A/p.Glu689X), a splice site variant (c.4818-1G>A) and a missense variant (c.3502T>A/p.Tyr1168Asn). Three of these were identified from a 445-member ASD cohort by ASD gene panel sequencing of the 96 subjects...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsOur results indicate the prevalence of multiple comorbidities varies across the lifespan in DS, and in adults, rates for psychiatric comorbidities show different patterns for males and females relative to expected population rates. Further, most health comorbidities are not associated with poorer cognitive outcomes in DS, apart from autism and epilepsy. It is essential for clinicians to consider such differences to provide appropriate care and treatment for those with DS and to provide prognostic information relating to cognitive outcomes in those with comorbidities.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
AbstractIntellectual disability (ID) and autism spectrum disorder (ASD) are two of the most common neurodevelopmental disorders. Both disorders are extremely heterogenous, and only ~  40% of reported cases have so far been attributed to genetic mutations. Of the many cellular processes that are affected, the ubiquitin system (UbS) is of particular relevance in that it can rapidly regulate multiple signaling cascades simultaneously. The UbS is a post-translational modification process that revolves around the covalent attachment of a ubiquitin moiety to a substrate, thereby influencing different elements of protein b...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
NHS England asked an “inadequate” hospital for people with learning disabilities and autism to admit a patient, despite the service having a “voluntary” ban on admissions in place — and shortly before inspectors decided to impose a legal restriction.
Source: HSJ - Category: UK Health Source Type: news
Patient safety is the number one priority in health care as safety is considered at every level of a health care organization (e.g., building, equipment, communication, processes for medications, treatments, and surgical procedures). Addressing the welfare of patients can be challenging, yet for some of the most vulnerable patients (e.g., special needs, disabilities and mental and social health issues), even the most routine nursing requests can put them at a safety risk. Simulations provide an opportunity for nursing students and professional nurses with realistic experiences caring for individuals with unique needs, espe...
Source: Clinical Simulation in Nursing - Category: Nursing Authors: Tags: Featured Article Source Type: research
Abstract Mutations in the X-linked gene IQSEC2 are associated with multiple cases of epilepsy, epileptic encephalopathy, intellectual disability and autism spectrum disorder, the mechanistic understanding and successful treatment of which remain a significant challenge in IQSEC2 and related neurodevelopmental genetic diseases. To investigate disease etiology, we studied behaviors and synaptic function in IQSEC2 deficient mice. Hemizygous Iqsec2 null males exhibit growth deficits, hyperambulation and hyperanxiety phenotypes. Adult hemizygotes experience lethal spontaneous seizures, but paradoxically have a signific...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
More News: Autism | Bioinformatics | Brain | Disability | Genetics | Neurology | Study