A5067628072- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Immunodeficiency and Autoimmune Disorders
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- Blood groups and transfusion
- Microtubule and mitosis dynamics
- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Genetic factors in colorectal cancer
- Skin and Cellular Biology Research
- RNA Research and Splicing
- Connective tissue disorders research
- Amyotrophic Lateral Sclerosis Research
- Multiple and Secondary Primary Cancers
- Health Systems, Economic Evaluations, Quality of Life
- Ion Channels and Receptors
- Neurological diseases and metabolism
- Cancer, Hypoxia, and Metabolism
- Ion channel regulation and function
- Fetal and Pediatric Neurological Disorders
- Polyamine Metabolism and Applications
- Prostate Cancer Treatment and Research
- Genetics, Aging, and Longevity in Model Organisms
Centre Hospitalier Universitaire de Bordeaux
2016-2025
Hôpital Beau-Séjour
2025
Université de Bordeaux
2020-2024
Inserm
2022-2024
Bordeaux Population Health
2024
Institut Bergonié
2021
l'Assurance Maladie
2019
Hôpital des Enfants
2017
Génétique Médicale & Génomique Fonctionelle
2017
Hôpital Pellegrin
2016
Fetal pleural effusions can arise in various contexts with different prognosis. They have been reported fetuses presenting hereditary or acquired conditions. One particularly rare genetic disorder, known as Knobloch syndrome, seems to emerge a potential new cause of fetal effusions, associated severe outcomes. syndrome 1 be caused by biallelic variants COL18A1. It is primarily characterized its ophthalmic features, including vitreoretinal degeneration retinal detachment and macular...
FLNA loss of function manifests across a broad spectrum phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence gene dosage anomalies and investigates genotype-phenotype correlations large cohort BPNH. A observational was conducted on 391 individuals diagnosed confirmed by brain MRI. Sequencing...
Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo in KDM2A , a lysine demethylase crucial for embryonic development, 18 individuals with developmental delays and/or intellectual disabilities. The severity ranged from learning disabilities to severe disability. Other core symptoms included feeding difficulties, growth issues such as intrauterine restriction, short stature...
TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in central nervous system and peripheral sensory neurons dorsal root ganglia. The recurrent substitution TRPM3: c.2509G>A, p.(Val837Met) has been associated with syndromic intellectual disability seizures. In this report, we present clinical molecular features seven previously unreported individuals, identified by exome sequencing, variant global developmental delay. Other shared included...
Abstract The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain AMP‐binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons is required for regeneration C. elegans . homologues vertebrates, Disco‐interacting homolog A ( DIP2A ), B DIP2B C DIP2C are highly conserved expressed widely central nervous system. Although there...
Summary Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It a rare disease caused by KMT2D and KDM6A variants, dominated intellectual disability characteristic facial features. Recurrently, pathogenic variants are identified those genes patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe genetic diagnosis clinical management with paediatric‐onset AIC KS. Among 11 KS, all had...
Abstract Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in axonemal chains, as well cytoplasmic light and intermediate have been linked with ciliary dyskinesia skeletal dysplasia. The 1 heavy chain protein (DYNC1H1) serves a core complex retrograde neuronal axons. Dominant pathogenic variants DYNC1H1 previously implicated peripheral neuromuscular disorders (NMD)...
Abstract Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct dementia cohorts. By screening a multicentric French cohort 448 unrelated probands presenting cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent public databases predicted by multiple silico tools. In addition, burden analyses the 100 000...
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...
Marfanoid habitus and intellectual disability (MHID) co-occur in multiple neurodevelopmental disorders (NDD). Among those, Lujan-Fryns, an X-linked genetic disorder associated with variants MED12 was the first such syndrome identified. Accurate molecular diagnosis for these MHID syndromes remains a challenge due to significant clinical heterogeneity. We present case report of 20-year-old male patient severe social anxiety. A comprehensive evaluation, including morphotype assessment,...
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes
Background PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden resulting from pathogenic variants. Missense variants account for 30% of PHTS cases, but their classification remains challenging. To address these difficulties, guidelines were published by the Clinical Genome Resource Variant Curation Expert Panel. Methods Between 2010 and 2020, Bergonie Institute reference laboratory identified 76 different non-truncating in 166 patients, 17 which have not...
We present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical features this cohort include global developmental delay and reduced sensitivity to pain, as well behavioral anomalies. Only one reported here was formally diagnosed autism spectrum disorder (ASD), while ASD-like were described others, overall indicating a lower prevalence ASD...