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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
TLDR
The large number of de-novo variants in known intellectual disability genes is only partially attributable to known non-specific phenotypes, suggesting a strong bias in present clinical syndrome descriptions.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
TLDR
It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
TLDR
Mutational analysis in 887 unselected patients with unexplained ID indicates that haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID, and it is added to the growing evidence that Chromatin- Remodeling defects are an important contributor to neurodevelopmental disorders.
LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
TLDR
It is proposed that haploinsufficiency of LETM1 may contribute to the neuromuscular features of WHS patients.
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
TLDR
It is shown that human LETM1 is located in the inner membrane, exposed to the matrix and oligomerized in higher molecular weight complexes of unknown composition, and caused 'necrosis-like' death, without activation of caspases and not inhibited by overexpression of Bcl-2.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
TLDR
Exome analysis revealed de novo intragenic variants in SET domain-containing 5 (SETD5) in two patients and CRISPR/Cas9 mutation modelling demonstrated nonsense-mediated decay of the resulting transcripts, pointing to a loss-of-function (LoF) and haploinsufficiency as the common disease-causing mechanism of intragenics SETD5 sequence variants and SETD 5-containing microdeletions.
LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
TLDR
Information about a possible function for LETM1 is presented and it is suggested that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction.
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome
TLDR
High-resolution molecular karyotyping with SNP arrays identified a 32-kb de novo in-frame deletion of the C-terminal helicase domain of the SMARCA2 gene in a patient with severe intellectual disability, epilepsy, sparse hair, prominent joints, and distinct facial anomalies.
A novel myosin heavy chain gene in human chromosome 19q13.3.
TLDR
A human myosin heavy chain gene was identified in chromosome 19q13 by computational sequence analysis, RT-PCR and DNA sequencing of the cDNA, and phylogenetic analysis indicated that these homologous proteins are more related among themselves than to MYH14, suggesting that possibly this myosIn heavy chain should be classified in a new myOSin-subfamily.
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
TLDR
It is proposed that truncating mutations in IQSEC2 are responsible for syndromic severe ID in male patients and should be screened in patients without mutations in MECP2, FOXG1, CDKL5 and MEF2C.
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