High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons
ConclusionsThese results represent a unique opportunity for the development of a specific class of compounds for treating 7Dup and other forms of intellectual disability and autism. (Source: Molecular Autism)
Source: Molecular Autism - November 19, 2020 Category: Molecular Biology Source Type: research

No preference for direct versus averted gaze in autistic adults: a reinforced preferential looking paradigm
ConclusionsThe absence of preference for direct versus averted gaze in the autistic group is probably due to difficulties in distinguishing eye gaze direction, potentially linked to a reduced spontaneous exploration or avoidance of the eye region. Social attention and preference for direct versus averted gaze correlated with alexithymia and social anxiety scores, but not gender. (Source: Molecular Autism)
Source: Molecular Autism - November 18, 2020 Category: Molecular Biology Source Type: research

Common and unique multimodal covarying patterns in autism spectrum disorder subtypes
ConclusionsAlthough ASD has a common neural basis with core deficits linked to social interaction, each ASD subtype is strongly linked to unique brain systems and subdomain symptoms, which may help to better understand the underlying mechanisms of ASD heterogeneity from a multimodal neuroimaging perspective.LimitationsThis study is male based, which cannot be generalized to the female or the general ASD population. (Source: Molecular Autism)
Source: Molecular Autism - November 18, 2020 Category: Molecular Biology Source Type: research

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats
ConclusionsWe observed increased HD and PSD area inShank3-Het rats. These observations suggest the occurrence of altered synaptic ultrastructure in this animal model, further pointing to a key role of defective expression of the Shank3 protein in ASD and Phelan –McDermid syndrome. (Source: Molecular Autism)
Source: Molecular Autism - November 17, 2020 Category: Molecular Biology Source Type: research

Differentially altered social dominance- and cooperative-like behaviors in Shank2 - and Shank3 -mutant mice
ConclusionsOur results underscore the heterogeneity of social behavioral alterations in different ASD mouse models and highlight the utility of testing complex social behaviors in validating neurodevelopmental and neuropsychiatric disorder models. In addition, neural activities at distinct brain regions are likely collectively involved in eliciting complex social behaviors, which are differentially altered in ASD mouse models. (Source: Molecular Autism)
Source: Molecular Autism - October 30, 2020 Category: Molecular Biology Source Type: research

Gray matter covariations and core symptoms of autism: the EU-AIMS Longitudinal European Autism Project
ConclusionsCovaried areas associated with autism diagnosis and/or symptoms are scattered across the whole brain and include the limbic system, basal ganglia, thalamus, cerebellum, precentral gyrus, and parts of the frontal, parietal, and occipital lobes. Some of these areas potentially subserve social-communicative behavior, whereas others may underpin sensory processing and integration, and motor behavior. (Source: Molecular Autism)
Source: Molecular Autism - October 30, 2020 Category: Molecular Biology Source Type: research

Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus
ConclusionsOur data show that the interaction between Shank3 N-terminus and δ-catenin is required for the postsynaptic targeting of δ-catenin. Failure of proper targeting of δ-catenin to postsynaptic sites may contribute to the pathogenesis of autism spectrum disorder. (Source: Molecular Autism)
Source: Molecular Autism - October 28, 2020 Category: Molecular Biology Source Type: research

Physical health of autistic girls and women: a scoping review
ConclusionsThe emerging literature suggests that autistic girls/women have heightened rates of physical health challenges compared to non-autistic girls/women and to autistic boys/men. Clinicians should seek to provide holistic care that includes a focus on physical health and develop a women ’s health lens when providing clinical care to autistic girls/women. (Source: Molecular Autism)
Source: Molecular Autism - October 27, 2020 Category: Molecular Biology Source Type: research

Face individual identity recognition: a potential endophenotype in autism
ConclusionsImpaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models. (Source: Molecular Autism)
Source: Molecular Autism - October 21, 2020 Category: Molecular Biology Source Type: research

Brain function distinguishes female carriers and non-carriers of familial risk for autism
ConclusionsThese methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD. (Source: Molecular Autism)
Source: Molecular Autism - October 20, 2020 Category: Molecular Biology Source Type: research

Imbalance of laminar-specific excitatory and inhibitory circuits of the orbitofrontal cortex in autism
ConclusionsThe balance between excitation and inhibition in OFC is at the core of its function, assessing and integrating emotional and social cues with internal states and external inputs. Our preliminary results provide evidence for laminar-specific changes in the ratio of excitation/inhibition in OFC of adults with ASD, with an overall weakening and likely disorganization of excitatory signals and a relative strengthening of local inhibition. These changes likely underlie pathology of major OFC communications with limbic or other cortices and the amygdala in individuals with ASD, and may provide the anatomic basis for d...
Source: Molecular Autism - October 20, 2020 Category: Molecular Biology Source Type: research

Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation
ConclusionsOur observations suggest that there is a reduction in the network connectivity of the in vitro neuronal network associated with ASD patients withTSC2 mutation, which may arise via an excitatory/inhibitory imbalance due to increased GABA-signalling at inhibitory synapses. This abnormality can be effectively suppressed via activation of ULK1. (Source: Molecular Autism)
Source: Molecular Autism - October 19, 2020 Category: Molecular Biology Source Type: research

Social attention to activities in children and adults with autism spectrum disorder: effects of context and age
AbstractBackgroundDiminished visual monitoring of faces and activities of others is an early feature of autism spectrum disorder (ASD). It is uncertain whether deficits in activity monitoring, identified using a homogeneous set of stimuli, persist throughout the lifespan in ASD, and thus, whether they could serve as a biological indicator ( “biomarker”) of ASD. We investigated differences in visual attention during activity monitoring in children and adult participants with autism compared to a control group of participants without autism.MethodsEye movements of participants with autism (n = 122; ...
Source: Molecular Autism - October 19, 2020 Category: Molecular Biology Source Type: research

White matter alterations in autism spectrum disorder and attention-deficit/hyperactivity disorder in relation to sensory profile
ConclusionsThese results indicate that white matter alteration and their relationships to sensory symptoms are largely shared between ASD and ADHD, with localized abnormalities showing significant between-diagnosis differences within DD. (Source: Molecular Autism)
Source: Molecular Autism - October 19, 2020 Category: Molecular Biology Source Type: research

Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP
ConclusionThese results suggest a molecular basis for bidirectional regulation of synaptic plasticity and behavior by TSC2 and FMRP. Our study also suggests that altered mGluR-regulated translation elongation contributes to impaired synaptic plasticity inTsc2+/ − mice. (Source: Molecular Autism)
Source: Molecular Autism - October 14, 2020 Category: Molecular Biology Source Type: research

De novo missense variants disrupting protein –protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types
ConclusionsDisrupted protein interactions identify gene sets involved in risk for ASD. Their gene expression during brain development and within cell types highlights how they relate to ASD. (Source: Molecular Autism)
Source: Molecular Autism - October 8, 2020 Category: Molecular Biology Source Type: research

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder
ConclusionsASD RIGs were functionally associated with DNGs; however, they exhibited higher heterogeneity than DNGs. (Source: Molecular Autism)
Source: Molecular Autism - October 5, 2020 Category: Molecular Biology Source Type: research

Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life
ConclusionsCollectively, these data suggest that UPR/ER stress pathways are reduced in the cerebral cortex of agedChd8V986*/+ mice. Our study uncovers neurodevelopmental and age-related phenotypes inChd8V986*/+ mice and highlights the importance of controlling for age when studyingChd8 haploinsufficient mice. (Source: Molecular Autism)
Source: Molecular Autism - October 4, 2020 Category: Molecular Biology Source Type: research

Autistic traits, systemising, empathising, and theory of mind in transgender and non-binary adults
ConclusionsThe current findings suggest a “masculinised” autism-related profile and reduced ToM in transgender men and in non-binary AFAB. These findings might be interpreted to support the extreme male brain theory of autism and the mindblindness theory. Further research is needed to corroborate these findings. (Source: Molecular Autism)
Source: Molecular Autism - September 28, 2020 Category: Molecular Biology Source Type: research

Differential mirror neuron system (MNS) activation during action observation with and without social-emotional components in autism: a meta-analysis of neuroimaging studies
ConclusionThe MNS is impaired in ASD. The abnormal activation patterns were found to be modulated by the nature of stimuli and age, which might explain the contradictory results from earlier studies on the “broken mirror neuron” debate. (Source: Molecular Autism)
Source: Molecular Autism - September 28, 2020 Category: Molecular Biology Source Type: research

Enhanced social learning of threat in adults with autism
ConclusionsThe enhanced social threat learning in individuals with ASD may be linked to difficulties using visual attention and mental state attributions to downregulate their emotion. (Source: Molecular Autism)
Source: Molecular Autism - September 21, 2020 Category: Molecular Biology Source Type: research

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome
ConclusionsOur findings provide further important insights in the requirement of UBE3A expression during brain development. We found that loss of up to 50% of UBE3A protein during prenatal mouse brain development does not significantly impact the assessed mouse behavioral phenotypes. Together with previous findings, our results indicate that the most critical function for mouse UBE3A lies in the early postnatal period between birth and P21. (Source: Molecular Autism)
Source: Molecular Autism - September 17, 2020 Category: Molecular Biology Source Type: research

Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology
AbstractThe complex pathophysiology of autism spectrum disorder encompasses interactions between genetic and environmental factors. On the one hand, hundreds of genes, converging at the functional level on selective biological domains such as epigenetic regulation and synaptic function, have been identified to be either causative or risk factors of autism. On the other hand, exposure to chemicals that are widespread in the environment, such as endocrine disruptors, has been associated with adverse effects on human health, including neurodevelopmental disorders. Interestingly, experimental results suggest an overlap in the ...
Source: Molecular Autism - September 9, 2020 Category: Molecular Biology Source Type: research

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms
ConclusionsThese data suggest that reduced amounts of the functional NL4X protein on the cell surface is a common mechanism by which point mutants of the NL4X protein cause psychiatric disorders, although different molecular mechanisms are thought to be involved. Furthermore, these results highlight that the precision medicine approach based on genetic and cell biological analyses is important for the development of therapeutics for psychiatric disorders. (Source: Molecular Autism)
Source: Molecular Autism - August 31, 2020 Category: Molecular Biology Source Type: research

Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach
ConclusionSensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD. (Source: Molecular Autism)
Source: Molecular Autism - August 30, 2020 Category: Molecular Biology Source Type: research

Placebo response in pharmacological and dietary supplement trials of autism spectrum disorder (ASD): systematic review and meta-regression analysis
ConclusionsPlacebo response in ASD was substantial and predicted by design- and participant-related factors, which could inform the design of future trials in order to improve the detection of efficacy in core symptoms. Potential solutions could be the minimization and careful selection of study sites as well as rigorous participant enrollment and the use of measurements of change not solely dependent on caregivers. (Source: Molecular Autism)
Source: Molecular Autism - August 25, 2020 Category: Molecular Biology Source Type: research

Exosomes derived from mesenchymal stem cells improved core symptoms of genetically modified mouse model of autism Shank3B
ConclusionsHerein, we hypothesized that MSC-exo would have a direct beneficial effect on the behavioral autistic-like phenotype of the genetically modified Shank3B KO mouse model of autism. Taken together, our data indicate that intranasal treatment with MSC-exo improves the core ASD-like deficits of this mouse model of autism and therefore has the potential to treat ASD patients carrying the Shank3 mutation. (Source: Molecular Autism)
Source: Molecular Autism - August 16, 2020 Category: Molecular Biology Source Type: research

Development of the Signposting Questionnaire for Autism (SQ-A): measurement comparison with the 10-item Autism Spectrum Quotient-Child and the Strengths and Difficulties Questionnaire in the UK and Latvia
ConclusionsThese results indicate the potential of the 14-item SQ-A to guide frontline professionals in the recognition of the signs of autism in children, facilitating the provision of appropriate support. (Source: Molecular Autism)
Source: Molecular Autism - August 14, 2020 Category: Molecular Biology Source Type: research

Alexithymia may explain the relationship between autistic traits and eating disorder psychopathology
ConclusionsOur findings with respect to autistic traits suggest that alexithymia could partially explain the prevalence of ED in autistic people and may as such be an important consideration in the pathogenesis and treatment of ED in autistic and non-autistic people alike. Further research with clinical samples is critical to explore these ideas. Differences between men and women, furthermore, emphasize the importance of looking for sex-specific as well as generic risk factors in autistic and non-autistic men and women. (Source: Molecular Autism)
Source: Molecular Autism - August 4, 2020 Category: Molecular Biology Source Type: research

Targeting PPAR α in the rat valproic acid model of autism: focus on social motivational impairment and sex-related differences
ConclusionsThe results support the involvement of impaired motivational mechanisms in ASD-like social deficits and suggest the rationale for a possible pharmacological treatment. Moreover, the study highlights sex-related differences in the expression of ASD-like symptoms and their differential responses to FBR treatment. (Source: Molecular Autism)
Source: Molecular Autism - July 26, 2020 Category: Molecular Biology Source Type: research

Coping, fostering resilience, and driving care innovation for autistic people and their families during the COVID-19 pandemic and beyond
AbstractThe new coronavirus disease (COVID-19) pandemic is changing how society operates. Environmental changes, disrupted routines, and reduced access to services and social networks will have a unique impact on autistic individuals and their families and will contribute to significant deterioration in some. Access to support is crucial to address vulnerability factors, guide adjustments in home environments, and apply mitigation strategies to improve coping. The current crisis highlights that our regular care systems are not sufficient to meet the needs of the autism communities. In many parts of the world, people have s...
Source: Molecular Autism - July 21, 2020 Category: Molecular Biology Source Type: research

Does decreased visual attention to faces underlie difficulties interpreting eye gaze cues in autism?
ConclusionsReduced visual attention to faces does not appear to contribute to atypical processing of eye gaze cues among adolescents with ASD. Instead, the difficulty for individuals with ASD is related to understanding the social communicative aspects of eye gaze information, which may not be extracted from visual cues alone. (Source: Molecular Autism)
Source: Molecular Autism - July 20, 2020 Category: Molecular Biology Source Type: research

Cerebral organoids as tools to identify the developmental roots of autism
AbstractSome autism spectrum disorders (ASD) likely arise as a result of abnormalities during early embryonic development of the brain. Studying human embryonic brain development directly is challenging, mainly due to ethical and practical constraints. However, the recent development of cerebral organoids provides a powerful tool for studying both normal human embryonic brain development and, potentially, the origins of neurodevelopmental disorders including ASD. Substantial evidence now indicates that cerebral organoids can mimic normal embryonic brain development and neural cells found in organoids closely resemble their...
Source: Molecular Autism - July 12, 2020 Category: Molecular Biology Source Type: research

Empathic disequilibrium in two different measures of empathy predicts autism traits in neurotypical population
ConclusionsOur study offers a novel perspective on the understanding of the social difficulties associated with autism tendencies in the general population and has potentially important clinical implications for understanding of ASC. We also propose a novel characterization of autism tendencies based on the imbalance between EE and CE, which we term ED, as opposed to examining EE and CE separately. (Source: Molecular Autism)
Source: Molecular Autism - July 12, 2020 Category: Molecular Biology Source Type: research

Gender identity, sexual orientation and adverse sexual experiences in autistic females
This study aimed to investigate the representation of gender and sexual diversity within autistic females and examine their rates of regretted, and unwanted, sexual encounters among females with a transgender gender identity and non-heterosexual sexual orientation.MethodsTwo hundred and ninety-five females completed the Sexual Behaviour Scale-III (SBS-III) online. Self-reported gender identity and sexual orientation were compared between 134 autistic (Mage= 26.2  years, SD= 8.7) and 161 non-autistic females (Mage = 22.0  years, SD = 4.6). Differences in the prevalence of negative sexual experiences were compa...
Source: Molecular Autism - July 10, 2020 Category: Molecular Biology Source Type: research

Reduced auditory steady state responses in autism spectrum disorder
ConclusionOverall, our results support a specific reduction in ASSR oscillatory power and inter-trial coherence in ASD, rather than a generalised deficit in gamma-band responses. We argue that this could reflect a developmentally relevant reduction in non-linear neural processing. (Source: Molecular Autism)
Source: Molecular Autism - June 30, 2020 Category: Molecular Biology Source Type: research

IGF-1 treatment causes unique transcriptional response in neurons from individuals with idiopathic autism
ConclusionsThe results presented in this study provide an important resource for researchers in the ASD field and underscore the necessity of using ASD patient lines to explore ASD neuronal-specific responses to drugs such as IGF-1. This study further helps to identify candidate pathways and targets for effective clinical intervention and may help to inform clinical trials in the future. (Source: Molecular Autism)
Source: Molecular Autism - June 25, 2020 Category: Molecular Biology Source Type: research

Advanced paternal age as a risk factor for neurodevelopmental disorders: a translational study
This study demonstrates associations between APA and social behaviors across species. They might be driven by changes in the expression of microRNAs and/or epigenetic changes regulating neuronal plasticity, leading to brain morphological changes and fronto-hippocampal connectivity, a network which has been implicated in social interaction. (Source: Molecular Autism)
Source: Molecular Autism - June 22, 2020 Category: Molecular Biology Source Type: research

Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns
ConclusionsPharmacological manipulations can alter the action potential burst profiles in both control and FMRP-null human cortical neurons, making them appear like their genetic counterpart. Our studies indicate that FMRP targets that have been found in rodent models of FXS are also potential targets in a human-based model system, and we suggest potential mechanisms by which activity is altered. (Source: Molecular Autism)
Source: Molecular Autism - June 18, 2020 Category: Molecular Biology Source Type: research

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism
AbstractBackgroundPhelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in theSHANK3 gene. To date, the molecular and pathway changes resulting fromSHANK3 haploinsufficiency in PMS remain poorly understood. Uncovering these mechanisms is critical for understanding pathobiology of PMS and, ultimately, for the development of new therapeutic interventions.MethodsWe developed human-induced pluripotent stem cell (hiPSC)-based models of PMS by reprogramming peripheral blood samples fr...
Source: Molecular Autism - June 18, 2020 Category: Molecular Biology Source Type: research

Evidence against the “normalization” prediction of the early brain overgrowth hypothesis of autism
ConclusionsThese findings challenge the “normalization” prediction of the brain overgrowth hypothesis by demonstrating that brain enlargement persists across childhood into early adulthood. The findings raise questions about the clinical implications of brain enlargement, since we find that it neither confers cognitive benefits nor pr edicts increased symptom severity in ASD. (Source: Molecular Autism)
Source: Molecular Autism - June 17, 2020 Category: Molecular Biology Source Type: research

The sociability spectrum: evidence from reciprocal genetic copy number variations
AbstractSociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species-specific. There is an ever-growing accumulation of molecular associations to autism spectrum disorders (ASD), from causative genes to endophenotypes across multiple functional layers; these  however, have rarely been put in context with the opposite manifestation featured in hypersociability syndromes. Genetic copy number variations (CNVs) allow to investigate the ...
Source: Molecular Autism - June 15, 2020 Category: Molecular Biology Source Type: research

Sex differences in the first impressions made by girls and boys with autism
ConclusionsFirst impressions made during naturalistic conversations with non-expert conversation partners could —in combination with clinical ratings and parent report—shed light on the nature and effects of behavioral differences between girls and boys on the autism spectrum. (Source: Molecular Autism)
Source: Molecular Autism - June 15, 2020 Category: Molecular Biology Source Type: research

Defining clusters of young autistic and typically developing children based on loudness-dependent auditory electrophysiological responses
ConclusionsTaken together, these data demonstrate the broader benefits of using electrophysiology to explore individual differences. They illuminate different neural response patterns and suggest relationships between sensory neural responses and sensory behaviors, cognitive abilities, and autism diagnostic status. (Source: Molecular Autism)
Source: Molecular Autism - June 14, 2020 Category: Molecular Biology Source Type: research

Absence of parvalbumin increases mitochondria volume and branching of dendrites in inhibitory Pvalb neurons in vivo: a point of convergence of autism spectrum disorder (ASD) risk gene phenotypes
ConclusionPV is involved in most proposed mechanisms implicated in ASD etiology: alterations in Ca2+ signaling affecting E/I balance, changes in mitochondria structure/function, and increased dendritic length and branching, possibly resulting in local hyperconnectivity, all in a likely cell autonomous way. (Source: Molecular Autism)
Source: Molecular Autism - June 8, 2020 Category: Molecular Biology Source Type: research

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion
This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same —or distinct—neural systems that mediate these symptoms in non-deletion carriers.MethodsWe examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25  years of age including (1) 50 individuals with 22q11.2DS, out of whichn = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neur...
Source: Molecular Autism - June 7, 2020 Category: Molecular Biology Source Type: research

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
ConclusionsOur study points to modest and context-dependent transcriptional consequences ofMbd5 disruption in the brain. It also suggests a possible link betweenMBD5 and perturbations in ciliary function, which is an established pathogenic mechanism in developmental disorders and syndromes. (Source: Molecular Autism)
Source: Molecular Autism - June 4, 2020 Category: Molecular Biology Source Type: research

Electronic communication in autism spectrum conditions
(Source: Molecular Autism)
Source: Molecular Autism - June 4, 2020 Category: Molecular Biology Source Type: research

Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation
ConclusionsConstitutional disruption of Pten nuclear localization with subsequent global decrease in Pten expression generates abnormal patterns of differentiation, a stunting of neuronal maturation. The propensity of Pten disruption to restrain neurons to a more progenitor-like state may be an important feature contributing to PTEN-ASD pathogenesis.Graphical abstract (Source: Molecular Autism)
Source: Molecular Autism - May 31, 2020 Category: Molecular Biology Source Type: research

Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
AbstractPatients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to...
Source: Molecular Autism - May 31, 2020 Category: Molecular Biology Source Type: research