Cyril Mignot

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

Title: The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development

This study identifies TRIM71 as essential for hearing in humans and mice, showing it regulates the timing of auditory sensory organ development and prevents premature hair cell differentiation.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici Syndrome patients

This study links proteotoxic stress from defective autophagy to epileptogenesis in Drosophila and Vici Syndrome patients, suggesting autophagy-stimulating diets as a potential treatment.

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.

Systematic analysis and prediction of genes associated with disorders on chromosome X

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.