Renaud Touraine
A5019693710- Genetics and Neurodevelopmental Disorders
- Tuberous Sclerosis Complex Research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- RNA modifications and cancer
- Congenital heart defects research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Allergic Rhinitis and Sensitization
- Down syndrome and intellectual disability research
- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- Connective tissue disorders research
- RNA regulation and disease
- Congenital gastrointestinal and neural anomalies
- Mitochondrial Function and Pathology
- Diagnosis and treatment of tuberculosis
- Tuberculosis Research and Epidemiology
- Sexual Differentiation and Disorders
- Cancer-related gene regulation
- Contact Dermatitis and Allergies
- Epigenetics and DNA Methylation
- Polyomavirus and related diseases
- Peptidase Inhibition and Analysis
- Immunodeficiency and Autoimmune Disorders
- Lichen and fungal ecology
Hôpital Nord
2016-2025
Biologie, ingénierie et imagerie pour l'Ophtalmologie
2025
Centre Hospitalier Universitaire de Saint-Étienne
2015-2024
Hôpital Louis Pradel
2024
Institute Cancer De La Loire Lucien Neuwirth
2016-2023
Collaborative Group (United States)
2023
Inserm
2023
Institut des Maladies Génétiques Imagine
2023
University of Zurich
2023
Seattle Children's Hospital
2020
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because complexity clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) an international designed address knowledge natural history and management TSC. Here, we present baseline data TOSCA cohort. Patients any age diagnosed with TSC, having documented visit for within preceding 12 months, or newly individuals were included....
To present the baseline data of international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on characteristics epilepsies associated tuberous sclerosis complex (TSC).Retrospective and prospective patients' all aspects TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type treatment, treatment outcomes association genotype, seizures control, intellectual disability. As for noninterventional...
Mutation in a small nuclear RNA hinders splicing of pre–messenger RNAs and causes the severe malformations Taybi-Linder syndrome.
Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, very little is known about TAND in adults. We explored baseline data the large-scale international TOSCA natural history study compare childhood adult patterns, describe age-based explore genotype-TAND correlations. The enrolled 2216 eligible participants with TSC 170 sites across 31 countries at cut-off third interim analysis (data date: September 30, 2015). most common...
This study describes the natural history of Barth syndrome (BTHS). The medical records all patients with BTHS living in France were identified multiple sources and reviewed. We 16 pedigrees that included 22 patients. TAZ mutations observed 15 pedigrees. estimated incidence was 1.5 cases per million births (95%CI: 0.2–2.3). median age at presentation 3.1 weeks (range, 0–1.4 years), last follow-up 4.75 years 3–15 years). Eleven died a 5.1 months; 9 deaths related to cardiomyopathy 2 sepsis....
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by typical face and distal limbs abnormalities, intellectual disability, vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% EP300 8–10% clinically diagnosed cases. Both paralogs act chromatin remodeling encode for transcriptional co‐activators interacting with >400 proteins. Up now 26 individuals an mutation have been published. Here, we describe the phenotype genotype 42 unpublished...
<h3>Background</h3> Overgrowth conditions are a heterogeneous group of disorders characterised by increased growth and variable features, including macrocephaly, distinctive facial appearance various degrees learning difficulties intellectual disability. Among them, Sotos Weaver syndromes clinically well defined due to heterozygous mutations in <i>NSD1</i> <i>EZH2</i>, respectively. NSD1 EZH2 both histone-modifying enzymes. These two epigenetic writers catalyse specific post-translational...
Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by the absence of submucosal and myenteric plexuses in variable length gastrointestinal tract. Pedigrees segregation analyses suggested involvement one or several dominant genes with low penetrance HSCR. Considering that RET glial cell line-derived neurotrophic factor (GDNF) mutations have been reported disease, we regarded other ligand, neurturin (NTN), as an attractive candidate gene, especially it shares large...
Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by homozygous inactivation of the SMN1 (Survival Motor Neuron 1) gene. The disease severity mainly influenced copy number SMN2, nearly identical gene from which only low amounts full-length mRNA are produced. This correlation not absolute, suggesting existence yet unknown factors modulating progression. We identified and characterized rare variant c.859G>C (p.Gly287Arg) in exon 7 both SMN2 copies male patient affected...
Abstract Pelizaeus–Merzbacher Disease is an X‐linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 11% of 53 families affected by hypomyelinating leukodystrophies unknown aetiology. The 12 mutated patients express initially a Pelizaeus–Merzbacher‐Like disease phenotype with latter unusual improvement magnetic resonance imaging white matter signal despite absence clinical progression. This observation underlines interest determining both...
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack development and/or early neurodegeneration cerebellum and brainstem. According to clinical features, seven subtypes PCH have been described, type 2 related TSEN54 mutations being the most frequent. often autosomal recessive though de novo anomalies in X-linked gene CASK recently identified patients, mostly females, presenting with intellectual disability, microcephaly (MICPCH). Fourteen patients (12...
Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates severity SMA. 0SMN1/1SMN2 genotype, most severe genotype compatible with life, expected to be associated form disease, called type 0 SMA, defined prenatal onset.The aim study was review clinical features and manifestations in this rare SMA subtype.SMA patients were retrospectively collected using UMD-SMN1 France database.Data from 16 reviewed. These displayed At birth, a vast...
Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies chromosome 21 increases the risk for CHD, trisomy itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute CHD risk. Here we report genomic variations that concert with 21, determine DS. This case-control GWAS includes 187 DS (AVSD = 69, ASD 53, VSD 65) as cases, and 151 without controls. Chromosome 21–specific association studies...
Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated potentially life-threatening complications. Despite this severity, there are no large population-based cohort studies. Here we present baseline follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) an aim provide detailed clinical characteristics renal among TSC. Patients any age documented clinic visit for TSC within 12 months or...
The aim of the study was to redefine phenotype Allan–Herndon–Dudley syndrome ( AHDS ), which is caused by mutations in SLC 16A2 gene that encodes brain transporter thyroid hormones. Clinical phenotypes, imaging, hormone profiles, and genetic data were compared existing literature. Twenty‐four males aged 11 months 29 years had a mutation , including 12 novel five previously described mutations. Sixteen patients presented with profound developmental delay, three severe intellectual disability...
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies deafness, most often caused by mutation in the CHD7 gene. Two features were then added: semicircular canal arhinencephaly/olfactory bulb agenesis, with classification typical, partial, or atypical forms on basis major minor clinical criteria. The detection rate pathogenic variant gene varies from 67% to...
Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology management of TSC, several questions remain unanswered. A disease registry could be effective tool to gain more insights into TSC thus help development improved strategies. TuberOus SClerosis increase Awareness (TOSCA) multicentre, international assess manifestations,...
Abstract Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation Massively Parallel Sequencing (MPS) in diagnostic laboratories greatly improving possibilities offering optimal care to patients. We present results a two-year period molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS 74 genes, (iii) additional approaches...
Background Balanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise balanced at the level in patients intellectual disability and/or congenital anomalies. Methods Breakpoints were characterised by a paired-end low depth whole genome (WGS) strategy and validated Sanger sequencing....