De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth

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 who remained negative after molecular testing for copy number variation, Rett syndrome, FragileX and tuberous sclerosis complex (TSC). The fourth (p.Glu689X) was detected separately by diagnostic trio exome sequencing. We used diagnostic instruments and a comprehensive review of phenotypes, including prenatal and postnatal  growth parameters, developmental milestones, and dysmorphic features to compare these four subjects. In addition to autism, they also presented with prenatal onset macrocephaly, intellectual disability, overgrowth during puberty, sleep disorder, and dysmorphic features, including broad forehead wi th prominent supraorbital ridges, flat nasal bridge, telecanthus and large ears. For further comparison, we compiled a comprehensive list ofCHD8 variants from the literature and databases, which revealed constitutive and somatic truncating...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research

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Although sleep is ubiquitous, its evolutionary purpose remains elusive. Though every species of animal, as well as many plants sleep, theories of its origin are purely physiological, e.g. to conserve energy, make repairs or to consolidate learning. An evolutionary reason for sleep would answer one of biology ’s fundamental unanswered questions. When environmental conditions change on a periodic basis (winter/summer, day/night) organisms must somehow confront the change or else be less able to compete in either niche. Seasonal adaptation includes the migration of birds, changes in honeybee physiology a nd winter absci...
Source: Journal of Circadian Rhythms - Category: Biology Source Type: research
Publication date: 1 June 2020Source: Carbohydrate Polymers, Volume 237Author(s): Jian Zou, Meijuan Xu, Lingrong Wen, Bao Yang
Source: Carbohydrate Polymers - Category: Biomedical Science Source Type: research
Publication date: 1 June 2020Source: Carbohydrate Polymers, Volume 237Author(s): Chayanaphat Chokradjaroen, Ratana Rujiravanit, Sewan Theeramunkong, Nagahiro Saito
Source: Carbohydrate Polymers - Category: Biomedical Science Source Type: research
Publication date: Available online 30 March 2020Source: Biochimica et Biophysica Acta (BBA) - BiomembranesAuthor(s): Lorenza González-Mariscal, Jael Miranda, Helios Gallego-Gutiérrez, Misael Cano-Cortina, Elida Amaya
Source: Biochimica et Biophysica Acta (BBA) Biomembranes - Category: Biochemistry Source Type: research
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Source: Proteomics - Category: Biochemistry Authors: Tags: Review Source Type: research
New J. Chem., 2020, Accepted Manuscript DOI: 10.1039/C9NJ05449A, PaperYang Lei, Haixia Ye, Siqing Xiang, Yuan Huang, Chao Zhu, Weiying Zhang, Yong Chen, Qing Liang You Achieving dynamic regulation of cell-surface interactions is especially attractive for tissue engineering and cell-based treatment. Herein, we report a bottom-up approach for the generation of near-infrared (NIR)-controlled supramolecular “Pipette Device”... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - New J. Chem. latest articles - Category: Chemistry Authors: Source Type: research
ABSTRACTGermicidal lamps that emit primarily 254 nm ultraviolet radiation (UV) are routinely utilized for surface sterilization but cannot be used for human skin because they cause genotoxicity. As an alternative, 222 nm ‐UVC have been reported to exert sterilizing ability comparable to that of 254 nm‐UVC without producing cyclobutane pyrimidine dimers (CPDs), the major DNA lesions caused by UV. However, there has been no clear evidence for safety in chronic exposure to skin, particularly with respect to carcino genesis. We therefore investigated the long‐term effects of 222 nm‐UVC on skin using a highly photocarci...
Source: Photochemistry and Photobiology - Category: Science Authors: Tags: RESEARCH ARTICLE Source Type: research
In this study the EGFR over‐expressing human head/neck OSC‐19‐luc2‐cGFP tumour with transfected GFP gen e was used in a skin‐fold window‐chamber model in BALB/c nude mice. The uptake and localization of the conjugate in the tumour and its surrounding normal tissues were studied by an intravital confocal laser scanning microscopy with image analyses. The tumour was also irradiated with 690 nm las er light 24 hours after conjugate administration. The vascular and tumour responses were examined by morphological evaluation and immunohistochemistry (IHC). The amount of conjugate in the tumour peaked at 24‐4...
Source: Photochemistry and Photobiology - Category: Science Authors: Tags: SPECIAL ISSUE RESEARCH ARTICLE Source Type: research
Contributors : Ivan Martinez ; Tayvia BrownmillerSeries Type : Expression profiling by arrayOrganism : Homo sapiensNumerous studies have implicated changes in the Y chromosome in male cancers, however few have investigated the biological importance of Y chromosome non-coding RNAs. Here, we demonstrate a group of Y chromosome-expressed long non-coding RNAs (lncRNAs) involved in male non-small cell lung cancer (NSCLC) radiation sensitivity. Radiosensitive male NSCLC cell lines demonstrated a dose-dependent induction of linc-SPRY3-2/3/4 following irradiation, not observed in radioresistant male NSCLC cell lines. Cytogenetics ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research
Israel ’s prime minister Benjamin Netanyahu in self-isolation; Moscow announces lockdown of 12m people; Syria records first deathCoronavirus latest: at a glanceNew study sheds light on infection mechanismHungary passes law that critics say will let Orb án rule by decreeUK coronavirus updates – liveSee all our coronavirus coverage8.23pmBSTCardinalAngelo De Donatis, Pope Francis ’ vicar for the archdiocese of Rome, has become the highest-ranking Catholic official known to have tested positive.De Donatis ’ office has said he was tested for the virus after feeling unwell and has been admitted to ...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Coronavirus outbreak World news UK news Europe US news Asia Pacific China Infectious diseases Science Medical research Microbiology Source Type: news
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