A5009304172- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Cardiomyopathy and Myosin Studies
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- interferon and immune responses
- Glycosylation and Glycoproteins Research
- RNA modifications and cancer
- RNA Research and Splicing
- Genetic factors in colorectal cancer
- Microtubule and mitosis dynamics
- Epilepsy research and treatment
- Phagocytosis and Immune Regulation
- Cell Adhesion Molecules Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Genetic Neurodegenerative Diseases
- Cardiac electrophysiology and arrhythmias
- Systemic Lupus Erythematosus Research
- Cardiovascular Effects of Exercise
- Nuclear Structure and Function
- Sperm and Testicular Function
- Autism Spectrum Disorder Research
Hospices Civils de Lyon
2021-2025
Association pour l'Utilisation du Rein Artificiel
2025
Institut NeuroMyoGène
2021-2022
Inserm
2022
Université Claude Bernard Lyon 1
2021-2022
Centre National de la Recherche Scientifique
2022
ABSTRACT Kohlschütter‐Tönz Syndrome (KTS) is an ultra‐rare autosomal recessive disorder, characterized by a clinical triad: infantile‐onset epilepsy, global developmental delay, and amelogenesis imperfecta. KTS caused pathogenic variants in ROGDI , encoding leucine zipper protein of unknown function. Our study characterizes novel homozygous variant (NM_024589.3:c.646‐2A>G) identified Tunisian family case with KTS, renal tubular acidosis, hyperammonemia. This disrupts canonical acceptor...
Abstract Rare variants affecting the epigenetic regulator KDM2B cause a recently delineated neurodevelopmental disorder. Interestingly, we previously identified both general KDM2B-associated episignature and subsignature specific to in DNA-binding CxxC domain. In light of existence distinct subsignature, set out determine if are associated with unique phenotype disease mechanism. We recruited individuals heterozygous assessed variants’ effect on protein expression ability. analyzed clinical...
Nucleoporin (NUP) 85 is a member of the Y-complex nuclear pore complex (NPC) that key for nucleocytoplasmic transport function, regulation mitosis, transcription, and chromatin organization. Mutations in various nucleoporin genes have been linked to several human diseases. Among them, NUP85 was childhood-onset steroid-resistant nephrotic syndrome (SRNS) four affected individuals with intellectual disability but no microcephaly. Recently, we broaden phenotype spectrum NUP85-associated disease...
Abstract Objectives Myotonia is a clinical sign typical of group skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in known causative genes ( CLCN1 and SCN4A ). Juvenile Myoclonic Epilepsy (JME) an epileptic syndrome identified as idiopathic generalized epilepsy, its genetics complex still unclarified. The co‐occurrence these two phenotypes rare causes...
Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition histone post-translational modifications leading to aberrant spatiotemporal gene expression during neurodevelopment. The male-specific lethal (MSL) complex is a prominent multi-subunit regulator and responsible for 4 lysine 16 acetylation (H4K16ac). Using exome sequencing, here we identify cohort 25 individuals...
The translocation of SRY onto one the two X chromosomes results in a 46,XX testicular disorder sex development; this is supposedly because non-allelic homologous recombination between protein kinase gene (PRKX) and inverted Y pseudogene (PRKY). Although SRY-positive men are infertile, literature data indicate that some these individuals short stature (relative to general population). We sought determine whether was linked additional, more complex chromosomal rearrangements.Twelve...
Developmental and epileptic encephalopathies (DEEs) refer to a group of severe syndromes characterized by seizures as well developmental delay which can be consequence the underlying etiology and/or encephalopathy. The genes responsible for DEEs are numerous their number is increasing since availability Next-Generation Sequencing. Pathogenic variants in GRM7, encoding metabotropic glutamate receptor 7, were recently shown cause DEE with autosomal recessive inheritance. To date, only ten...
Despite significant advances in knowledge over recent decades, the role of most protein-coding genes remains unknown. Exome sequencing continues to provide opportunities improve our current understanding human genome by elucidating novel genotype-phenotype associations.
Dilated cardiomyopathy (DCM) is the most common form of and one causes heart failure. TTN-truncating variants represent cause DCM. Similarly, among other prevalent DCM-causing genes, truncating were also frequently detected in BAG3, DSP, FLNC, LMNA. For these four current study aims to determine prevalence deep intronic pathogenic that could lead splice defects. A next-generation sequencing (NGS) workflow based on whole gene LMNA a cohort 95 DCM patients, for whom no putatively causative...
Abstract Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have associated lupus phenotype. It unclear whether interferon signaling sustained in deficiency humans. Here we report four new patients carrying biallelic variations, including two previously unreported mutations. Disease one patient was characterized by nephritis skin lesions, while others exhibited...