Benoît Mazel
A5076130634- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Autism Spectrum Disorder Research
- Atherosclerosis and Cardiovascular Diseases
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Health Systems, Economic Evaluations, Quality of Life
- RNA and protein synthesis mechanisms
- Pancreatic function and diabetes
- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- Receptor Mechanisms and Signaling
- Cardiomyopathy and Myosin Studies
- Metabolism and Genetic Disorders
- Cardiovascular Function and Risk Factors
- Congenital heart defects research
- PI3K/AKT/mTOR signaling in cancer
- Mitochondrial Function and Pathology
- Ion channel regulation and function
- Epigenetics and DNA Methylation
- Family and Disability Support Research
- Cancer-related gene regulation
Université de Bourgogne
2022-2024
CHU Dijon Bourgogne
2021-2024
Inserm
2023-2024
Université Bourgogne Franche-Comté
2023
Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine
2022
Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) are the most frequent, recurrent monogenic of cerebral palsy (CP). We investigated range clinical phenotypes owing to disruptions determine association between NEDSDV CP.Genetic information from 404 individuals collectively 392 pathogenic were ascertained for study. From these, detailed 52 previously unpublished collected combined 68 published...
Abstract We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous that regulates transport and translation of neuronal mRNAs critical for synaptic plasticity, as well encoding proteins important cell proliferation migration multiple types. identified 12 cases variants, neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%),...
Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in GNAI2 , which encodes G αi2 a key component heterotrimeric protein signal transduction usually thought to regulate adenylyl cyclase–mediated cyclic adenosine monophosphate (cAMP) production. Patients activating had clinical presentations that included impaired immunity. Mutant cell migration and augmented responses T receptor (TCR)...
Xq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between repeats separated by 0.5 Mb. It responsible for a syndromic form intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, overweight have also been described. Half female carriers reported ID, whereas all evaluated born males present mild to moderate suggesting complete penetrance. We collected data on 15 families from...
Abstract Introduction The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic the ClinVar database. We aimed to delineate its associated phenotype evaluate a potential founder effect. Methods retrospectively collected clinical genetic data of 22 probands 74 family members from an international cohort. Results In total, 53 individuals carried variant, whom 38 (72%) were diagnosed with hypertrophic cardiomyopathy (HCM)....
Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable sit, walk, or speak. For years, sequencing was only prescribed in such cases, limiting insight into the full clinical spectrum associated this gene. Next-generation (NGS) now enables unbiased diagnostics. Through European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we...
<title>Abstract</title> Chromosomal microdeletions represent a complex class of genetic disorders. Recently, 16p13.3 encompassing <italic>TBC1D24</italic>and <italic>ATP6V0C</italic> have gained prominence as structural variants associated with neurodevelopmental disorders, but their occurrence mechanisms remain unexplored.<bold> </bold>We used comprehensive range sequencing technologies (mate pair genome sequencing, linked-pair nanopore targeted locus amplification (TLA), long and nested...
With the emergence of targeted therapies, there is a need to accurately identify more tumor biomarkers. The EXOMA trial was designed offer and germline exome sequencing (ES) patients with solid malignant tumors facing therapeutic failure. As hereditary cancer predispositions could be identified, genetic counseling health management implications, consultation systematically established. This design needs discussed as human resources are limited indication theranostic tests will...
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive disorder associating developmental sex (DSD) in patients 46,XY karyotype and visceroautonomic dysfunction responsible for sudden death. First described 2004, very few have since been reported. We describe here new patient SIDDT epileptic encephalopathy (EE). provide phenotypic description genetic results boy carrying biallelic TSPYL1 deleterious variants. also reviewed data 26 previously SIDDT....