Identification of a de novo splicing variant in the Coffin –Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

ConclusionsTaking into account the novel finding reported in this study, we consider that CSS should be added to the expanding list of differential diagnoses for AS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, lack of speech, ataxia, EEG abnormalities, and epilepsy. Seizures in individuals with AS are common, debilitating, and often drug resistant. Thus, there is an unmet need for better treatment options. Cannabidiol (CBD), a major phytocannabinoid constituent of cannabis, has shown antiseizure activity and behavioral benefits in preclinical and clinical studies for some disorders associated with epilepsy, suggesting that the same could be true for AS. Here, we show that acute CBD (100 mg/kg) treatment attenuated hyperthermia- and ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Conclusion The findings of this study suggest that buspirone may be effective for the amelioration of behaviors related to anxiety in patients with AS, and well tolerated. Limitations include the open-label nature of these treatments, the small sample size and the absence of a control group.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
Angelman syndrome (AS) is a genetic and neurological disorder characterized by severe developmental delay and learning disabilities, speech impairment, ataxia, tremulousness with jerky movements of limbs and a happy, sociable disposition. This disorder affects males and females in equal numbers with a prevalence of approximately 1 in 12,000-20,000 live births. The etiology is the loss of function of the imprinted UBE3A gene in 15q11-q13. The four known mechanisms include chromosome deletions, genetic imprinting errors, mutations in the UBE3A gene, and paternal uniparental disomy (UPD) [1].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Short communication Source Type: research
Conclusion The findings of this study suggest that buspirone may be effective for the amelioration of behaviors related to anxiety in patients with AS, and well tolerated. Limitations include the open-label nature of these treatments, the small sample size and the absence of a control group.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
Publication date: Available online 24 September 2018Source: Stem Cell ResearchAuthor(s): Anika Neureiter, Björn Brändl, Michaela Hiber, Rashmi Tandon, Franz-Josef Müller, Laura SteenpassAbstractAngelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of the brain, expressed exclusively from maternal chromosome 15. The generated iPSC line was derived from ...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
In this report, we present a 5-year-old girl with AS associated with atypical clinical manifestations, including developmental dysplasia of the hip and simian line in the right hand, and her elder sister with AS. Even if any gene mutation cannot be demonstrated, it should be kept in mind that different mutations may exist in the cases that are the suggestive of clinical AS. Therefore, AS patients can be exposed to special education, and their quality of life can be elevated.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research
AbstractAngelman syndrome (AS) is a complex genetic disorder that affects the nervous system. AS affects an estimated 1 in 12,000 to 20,000 individuals. Characteristic features of AS includes developmental delay or intellectual disability, severe speech impairment, seizures, small head size (microcephaly), and problems with movement and balance (ataxia). AS individuals usually have microdeletion of the maternal copy of 15q11.2 –15q13 region of chromosome 15. The E6-associated protein (E6AP, an E3 ubiquitin protein ligase enzyme) is encoded by the geneUBE3A, which is located in this region, and it has been shown that ...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
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...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11‐q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11‐q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non‐specific intellectual disability. Unlike typical AS syndrome, they can have a vocabulary up to 100 words and ...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research
Abstract AS(OMIM #105830) is a neurodevelopmental disease that characterized by severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy and distinct behavioural profile. A tertiary wide study was performed in Hong Kong with aim to examine the clinical and molecular features, genotype-phenotype correlation of the Angelman syndrome (AS) patients. There were total 55 molecularly confirmed AS between January 1995 to September 2015 for review. 65.5% of them were caused by maternal microdeletion, 10.9% by paternal uniparental disomy, 3.6% by imprinting center defect and 14.5% by UBE3A gene mu...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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