Genetics and Neurodevelopmental Disorders

The paper identifies new genetic variants in patients with Angelman syndrome-like features, expanding the known genetic spectrum and highlighting genetic heterogeneity.

This study investigates somatosensory processing deficits in Shank3b-/- mice, finding reduced cortical and hippocampal activation and connectivity linked to hypo-responsiveness to tactile stimuli.

This study shows that postsynaptic FMRP is required for maturation of callosal synapses in mice, with sensory experience modulating synaptic strength.

This paper develops a MYT1L syndrome mouse model that recapitulates human phenotypes, revealing disrupted brain development and neuronal maturation as underlying mechanisms.

This study identifies Ephexin5 as a key UBE3A substrate whose removal rescues hippocampal dysfunction and behavioral deficits in Angelman syndrome mouse models.

This study investigates treatment resistance to mGluR5 NAMs in FXS model mice and shows that brief treatment during a critical period can lead to long-term cognitive improvements.

This study identifies sensory processing dysregulations in SYNGAP1 haploinsufficiency in mice and humans, suggesting they as potential translational biomarkers.

This study uses comparative genomics to identify potential therapeutic targets for Rett syndrome by analyzing co-evolutionary relationships with MECP2 and testing drug candidates in neural cells.

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

This study shows that DcpS, an mRNA-decapping enzyme, is critical for neuronal development and that its mutation leads to developmental delay and intellectual disability.

This study shows that elevated MMP-9 activity during early neurodevelopment causes neural circuit hyperconnectivity and behavioral deficits in Xenopus tadpoles, which can be reversed by blocking MMP-9.

The paper shows that mitochondrial proteostasis genes in a neurodevelopmental syndrome locus are essential for synapse function and behavior in Drosophila.

The paper investigates transcriptional and translational changes in Tsc1-deficient cerebellar Purkinje cells, finding reduced FMRP target transcripts with increased degradation and decreased SHANK2 levels in synapses.

The paper characterizes Pcdh19 mutant mice, finding subtle molecular changes, increased exploratory behavior, and social environment effects on wild-type littermates.

This study shows that loss of ASH1L in developing mouse brains leads to autistic-like behaviors and cognitive impairments, establishing a causal link between ASH1L mutations and ASD/ID.

This study shows that FMRP helps adjust cocaine self-administration behavior to maintain reinforcement levels, as seen in Fmr1 KO mice with reduced Arc expression.

This study develops a Ddx3x haploinsufficient mouse model to investigate DDX3X syndrome, finding developmental and behavioral abnormalities linked to brain structural changes.

This study reports carrier screening and prenatal diagnosis results for Fragile X Syndrome in East Asian populations, finding carrier prevalence and full mutation incidence rates and validating genetic thresholds.

This study shows that impaired A-type potassium channel function in FXS mice leads to reduced dendritic spike initiation and TA-LTP, suggesting a potential therapeutic target for cognitive impairments.

This study shows that MeCP2 deficiency increases susceptibility to autoimmune encephalomyelitis and disrupts immune regulation, highlighting its role in neuroinflammation in Rett Syndrome.

This study shows that Cul3 mutations in mice cause ASD-like behaviors and neuronal migration defects during brain development, but not in adults.

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

This study investigates altered processing of low and high spatial frequency channels in V1 of Fmr1 KO mice, showing reduced habituation and excessive high SF processing linked to visual perception impairments in FX and autism.

This study creates 2D and 3D human FXS models using FMRP-KO iPSCs, showing altered gene expression, impaired differentiation, and increased glial proliferation.

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

This paper identifies a novel RLIM variant causing severe Tonne-Kalscheuer syndrome by disrupting protein stability and function.

This study shows two ASD-associated SHANK3 mutations cause structural changes and altered protein turnover at synapses.

The paper shows that reducing S6K1 corrects translation defects in FXS mice by normalizing ribosome translocation and translation efficiency across mRNA lengths.