Edgard Verdura
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View article: Expanding the Genetic and Phenotypic Spectrum of <scp>DYT</scp> ‐ <scp> <i>VPS16</i> </scp> : The Importance of Splice‐Site Variants
Expanding the Genetic and Phenotypic Spectrum of <span>DYT</span> ‐ <span> <i>VPS16</i> </span> : The Importance of Splice‐Site Variants Open
Background DYT ‐ VPS16 , an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT ‐ VPS16 by investigating early‐onse…
View article: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS Open
View article: Additional Cover
Additional Cover Open
Cover legend: The cover image is based on the article Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia by Aurora Pujol et al., https://doi…
View article: Altered tubulin detyrosination due to <scp>SVBP</scp> malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Altered tubulin detyrosination due to <span>SVBP</span> malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia Open
Senescence, marked by permanent cell cycle arrest may contribute to the decline in regenerative potential and neuronal function, thereby promoting neurodegenerative disorders. In this study, we employed whole exome sequencing to identify a…
View article: Clinical and Molecular Profiling in <scp>GNAO1</scp> Permits Phenotype–Genotype Correlation
Clinical and Molecular Profiling in <span>GNAO1</span> Permits Phenotype–Genotype Correlation Open
Background Defects in GNAO1 , the gene encoding the major neuronal G‐protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explai…
View article: ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization Open
View article: RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia Open
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from…
View article: Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescence
Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescence Open
Background Aminoacyl-tRNA synthetases (ARS) are key enzymes catalysing the first reactions in protein synthesis, with increasingly recognised pleiotropic roles in tumourgenesis, angiogenesis, immune response and lifespan. Germline mutation…
View article: Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases Open
View article: Biallelic variants in <i>SLC35B2</i> cause a novel chondrodysplasia with hypomyelinating leukodystrophy
Biallelic variants in <i>SLC35B2</i> cause a novel chondrodysplasia with hypomyelinating leukodystrophy Open
Sulphated proteoglycans are essential in skeletal and brain development. Recently, pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis have been identified in a range of chondrodysplasia associated with…
View article: Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization Open
Our strategy enables a high diagnostic yield and is a good alternative to trio WES/WGS for GWMD. It shortens the time to diagnosis compared to the classical targeted approach, thus optimizing appropriate management. Furthermore, the intera…
View article: Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations Open
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. P…
View article: Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments
Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments Open
Fragile X syndrome (FXS) is the most frequent monogenic cause of autism or intellectual disability, and research on its pathogenetic mechanisms has provided important insights on this neurodevelopmental condition. Nevertheless, after 30 ye…
View article: Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder Open
View article: Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy Open
Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these li…
View article: DLG4-related synaptopathy: a new rare brain disorder
DLG4-related synaptopathy: a new rare brain disorder Open
View article: Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome Open
View article: A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy Open
Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure …
View article: Expanding the clinical and genetic spectrum of PCYT2-related disorders
Expanding the clinical and genetic spectrum of PCYT2-related disorders Open
Recently, Vaz et al. reported four families with complex hereditary spastic paraplegia (cHSP) and biallelic variants in PCYT2 encoding CTP: phosphoethanolamine cytidylyltransferase (ET), the rate-limiting enzyme for phosphatidylethanolamin…
View article: <i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features Open
Introduction Pigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for ly…
View article: A deep intronic splice variant advises reexamination of presumably dominant <i>SPG7</i> Cases
A deep intronic splice variant advises reexamination of presumably dominant <i>SPG7</i> Cases Open
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample. RT‐PCR and cDNA Sanger sequ…
View article: Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia Open
Background Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1 , encoding the voltage-gated K + channel subunit Kv1.1. All of these mutations are either transmitt…
View article: A novel mutation in the <i>GFAP</i> gene expands the phenotype of Alexander disease
A novel mutation in the <i>GFAP</i> gene expands the phenotype of Alexander disease Open
Background Alexander disease, an autosomal dominant leukodystrophy, is caused by missense mutations in GFAP . Although mostly diagnosed in children, associated with severe leukoencephalopathy, milder adult forms also exist. Methods A famil…
View article: DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations Open
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the D…
View article: Can whole-exome sequencing data be used for linkage analysis?
Can whole-exome sequencing data be used for linkage analysis? Open
View article: Heterozygous<i>HTRA1</i>mutations are associated with autosomal dominant cerebral small vessel disease
Heterozygous<i>HTRA1</i>mutations are associated with autosomal dominant cerebral small vessel disease Open
Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most small vessel diseases appear sporadic and related to age and hypertension, several early-onset monogenic for…
View article: Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease Open
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