|
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Collectively, our results reveal a critical role of SHANK3 in the development of prefrontal anatomy and function, and suggest that SHANK3 deficiency may predispose to intellectual disability and socio-communicative impairments via dysregulation of higher-order cortical connectivity.<b>SIGNIFICANCE STATEMENT</b> Mutations in the synaptic scaffolding protein SHANK3 are commonly associated with autism, intellectual, and language deficits.
|
31061091 |
2019 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
De novo mutations (DNMs) of SHANK3 were subsequently identified in patients with several neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia (SCZ), a Rett syndrome-like phenotype, and intellectual disability (ID).
|
30537371 |
2018 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutation in the SHANK3 human gene leads to different neuropsychiatric diseases including Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid syndrome.
|
29988084 |
2018 |
|
Intellectual Disability
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition.
|
27189882 |
2017 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Furthermore, a significant number of SHANK3 mutations have been identified in patients with autism spectrum disorders (ASD), and SHANK3 truncating mutations are associated with moderate to profound ID.
|
27021819 |
2017 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.
|
28754298 |
2017 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations/deletions in the SHANK3 gene are associated with autism spectrum disorders and intellectual disability.
|
27492494 |
2017 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The most common semiology is atypical absence seizure, which can be challenging to identify due to comorbid intellectual disability in individuals with SHANK3 mutations; however, no consistent seizure semiology, neuroimaging findings, or EEG findings were present in the majority of individuals with SHANK3 mutations.
|
27554343 |
2016 |
|
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1.
|
25131214 |
2015 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Here, we present the first report of a female patient with RTT-like phenotype caused by SHANK3 (SH3 and multiple ankylin repeat domain 3) mutation, indicating that the clinical spectrum of SHANK3 mutations may extend to RTT-like phenotype in addition to (severe) developmental delay, absence of expressive speech, autistic behaviors and intellectual disability.
|
25931020 |
2015 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
|
25188300 |
2014 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Shank/ProSAP proteins are major scaffold proteins of the postsynaptic density; mutations in the human SHANK3 gene are associated with intellectual disability or autism spectrum disorders.
|
23897824 |
2013 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability.
|
22509352 |
2012 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Genetic mutations of SHANK3 have been reported in patients with intellectual disability, autism spectrum disorder (ASD) and schizophrenia.
|
21606927 |
2012 |
|
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown.
|
22503632 |
2012 |
|
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay.
|
18523453 |
2008 |
|
Intellectual Disability
|
0.500 |
Biomarker
|
group |
LHGDN |
Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech.
|
16284256 |
2006 |
|
Intellectual Disability
|
0.500 |
Biomarker
|
group |
CTD_human |
Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech.
|
16284256 |
2006 |
|
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech.
|
16284256 |
2006 |
|
Intellectual Disability
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|