Members of this protein family have been implicated in intellectual disability.
Recently, over 50 additional autosomal recessive loci have been implicated in intellectual disability [ 44].
Interestingly, a gene from the same family, ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor 6), has been implicated in intellectual disability (Kutsche et al. 2000).
ARID1B, which is a member of the SWI/SNF-A chromatin remodeling complex, has been implicated in intellectual disability and autism spectrum disorders [ 33, 34].
As CNTNAP2 has been implicated in intellectual disability (Gregor et al. 2011; Zweier et al. 2009), ASD (Alarcon et al. 2008) and in language impairment without ASD (Vernes et al. 2008; Whitehouse et al. 2012), it could also have contributed to the patient's phenotype.
In 2011, mutations in several genes coding for key components of the SWI/SNF complex were implicated in intellectual disability syndromes.
Rare copy-number variants (CNVs) have been implicated in autism and intellectual disability.
Abnormal synapses have been implicated in not only intellectual disability but also autism, schizophrenia, bipolar disorder, and Alzheimer's disease.
Moreover, it has also been implicated in tumor suppression and intellectual disability., Here, we will summarize what is known about the function of the SWI/SNF complex, its role in tumor formation and its involvement in intellectual disability, prior to discussing the comparison of the mutational spectrum between intellectual disability and tumor development.
Interestingly, so far, none of them has been found to be specific for ASDs, in that most have also been implicated in other neuropsychiatric disorders, including, for example, intellectual disability, schizophrenia and epilepsy.
"The government's extraordinary request eviscerates the purpose of the All Writs Act, and unnecessarily compromises the proprietary intellectual property of a private company that has not been implicated, in any way, with the crime under investigation," Lavabit adds.
