Audrey Putoux
A5029940812- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Genetic and Kidney Cyst Diseases
- RNA Research and Splicing
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Hedgehog Signaling Pathway Studies
- Epigenetics and DNA Methylation
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Connective tissue disorders research
- Cancer-related gene regulation
- Chromosomal and Genetic Variations
- DNA Repair Mechanisms
- RNA and protein synthesis mechanisms
- Chromatin Remodeling and Cancer
- Craniofacial Disorders and Treatments
- Mitochondrial Function and Pathology
- Genomics and Chromatin Dynamics
- MicroRNA in disease regulation
- Cancer-related molecular mechanisms research
- Machine Learning in Bioinformatics
Hospices Civils de Lyon
2015-2025
Université Claude Bernard Lyon 1
2016-2025
Inserm
2016-2025
Centre de Recherche en Neurosciences de Lyon
2016-2025
Centre National de la Recherche Scientifique
2016-2025
Hôpital Femme Mère Enfant
2014-2024
Centre Hospitalier Le Vinatier
2018-2024
Civil Service
2024
Institut NeuroMyoGène
2022
AtlantiCare
2022
Pitt-Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical facial gestalt, is part of the clinical spectrum Rett-like syndromes. TCF4, encoding a basic helix-loop-helix (bHLH) transcription factor, was identified as disease-causing gene with de novo molecular defects. While PTHS appears to be recognizable entity, it seems remain underdiagnosed, especially when gestalt less typical. With aim facilitate diagnosis increase its rate specificity, we have...
The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 modulating actin cytoskeleton remodeling. Pathogenic variants in are associated with neurodevelopmental diseases, including intellectual disability (ID) autism spectrum disorders (ASD). Here, we report largest international cohort 24 individuals confirmed pathogenic missense or nonsense TRIO. mutations spread...
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....
A girl patient born to healthy nonconsanguineous parents was referred at age 3 years and 2 months our genetics department for testing due developmental delay postnatal microcephaly. Initial clinical evaluation revealed an overall delay, mildly dysmorphic features, thin, sparse fair hair, skin. Postnatal microcephaly progressive ataxia spasticity appeared later. Array CGH karyotyping showed a 333 kb de novo microdeletion on 3p22 covering the entire genomic sequence of single gene, CTNNB1 ,...
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function missense variants in <i>KIAA1109</i> allowing delineation an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics this combine brain atrophy clubfoot arthrogryposis. Affected present cerebral parenchymal...
PurposeVariants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy males and females. We aimed to investigate sex-specific differences.MethodsWe collected the data of 37 unpublished patients (18 19 females) IQSEC2 pathogenic variants 5 individuals unknown significance reviewed published variants. compared variant types phenotypes females performed an analysis isoforms.ResultsIQSEC2 mainly led premature truncation were scattered throughout...
Although haploinsufficiency of ANKRD11 is among the most common genetic causes neurodevelopmental disorders, role rare missense variation remains unclear. We characterized clinical, molecular, and functional spectra variants.
Abstract Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis rare diseases. The publication episignatures as effective biomarkers certain Mendelian neurodevelopmental disorders has raised hopes to help classify VUS. However, prediction abilities most published have not been independently investigated yet, which is prerequisite an informed and rigorous use in diagnostic setting. We generated DNA methylation data from 101 carriers (likely) pathogenic...
Abstract The non-homologous end joining (NHEJ) pathway is essential to repair DNA double-strand breaks. XRCC4 acts as a stabilizer of the ligase LIG4 in NHEJ process. In humans, pathogenic variants are responsible for microcephalic primordial dwarfism syndrome (MPD). Currently, 17 patients have been reported with -related MPD and we report 7 new from 6 different families, including one fetus. present short stature, severe microcephaly, neurodevelopmental disorder additional features, such...
In the human genome, about 750 genes contain one intron excised by minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial dwarfism type 1), Roifman (RFMN), and Lowry-Wood (LWS) syndromes. These rare developmental disorders, whose physiopathological mechanisms remain unsolved, associate ante- post-natal growth retardation, microcephaly, skeletal...
We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This was encountered in four index cases and allowed prenatal diagnosis CL associated with Walker-Warburg syndrome. The included both an outer echogenic band reduced pericerebral space, corresponding to infra- supratentorial extracortical layer neuroglial overmigration on pathological examination, 'Z'-shaped appearance the brainstem. found as early 14 weeks' gestation...
Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations RNU4ATAC , transcribed into the minor spliceosomal U4atac snRNA, are responsible for three rare autosomal recessive multimalformation disorders named Taybi–Linder (TALS/MOPD1), Roifman (RFMN), Lowry–Wood (LWS) syndromes, which associate numerous overlapping signs of varying severity. Although RNA-seq experiments have been conducted on few RFMN patient cells, none performed...
Herein, we report the screening of a large panel genes in series 80 fetuses with congenital heart defects (CHDs) and/or heterotaxy and no cytogenetic anomalies. There were 49 males (61%/39%), family history 28 cases (35%) parental consanguinity 77 (96%). All had complex CHD except one who midline anomalies while 52 (65%) addition to CHD. Altogether, 29 (36%) extracardiac extra-heterotaxy A pathogenic variant was found 10/80 (12.5%) higher percentage group (8/52 cases, 15%) compared...
We report the screening of a large panel genes in series 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified 22% cases, greatly improving genetic counseling. The percentage explaining phenotype was different according to type phenotype. highest diagnostic yield found cases ciliopathy-like (11/15 families and, addition, single heterozygous or homozygous Class 3 variant PKHD1 three unrelated autosomal recessive polycystic kidney disease). lowest...
Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%-10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe first French national multicenter pilot study aiming implement ES diagnosis following detection US. Patients and methods: prospectively performed trio-ES 150 fetuses with at least two US or one anomaly known be frequently linked a genetic disorder. Trio-ES was only if...
<h3>Background</h3> Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in <i>KIF7</i>, key component Sonic hedgehog pathway, as being responsible for this syndrome. <h3>Methods</h3> We sequenced <i>KIF7</i> five suspected ACLS cases, one fetus four patients, based on facial dysmorphism...
Polymicrogyria is a heterogeneous malformation of cortical development microscopically defined by an excessive folding the mantle resulting in small gyri with fused surface. responsible for wide range neurological symptoms (e.g. epilepsy, intellectual disability, motor dysfunction). Most cases have supposed environmental clastic vascular or infectious origin but progress genomics has revealed new monogenic entities. We report four from two independent families sharing common recognizable...