Caroline Rooryck
A5010817762- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Congenital heart defects research
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
- melanin and skin pigmentation
- Cardiovascular Effects of Exercise
- Congenital Heart Disease Studies
- Ocular Disorders and Treatments
- RNA modifications and cancer
- Cardiac electrophysiology and arrhythmias
- Craniofacial Disorders and Treatments
- Genetic Syndromes and Imprinting
- Cardiac Arrhythmias and Treatments
- Cardiovascular Function and Risk Factors
- Biochemical Analysis and Sensing Techniques
- Congenital Ear and Nasal Anomalies
- Genetic and Kidney Cyst Diseases
- Connective tissue disorders research
- Ubiquitin and proteasome pathways
- Genetic Neurodegenerative Diseases
- Genomics and Chromatin Dynamics
Centre Hospitalier Universitaire de Bordeaux
2016-2025
Inserm
2016-2025
Bordeaux Population Health
2017-2025
Université de Rouen Normandie
2025
Université de Bordeaux
2015-2024
Maladies Rares: Génétique et Métabolisme
2012-2024
Hôpital Pellegrin
2012-2024
Génétique Médicale & Génomique Fonctionelle
2014-2024
Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
2014-2022
Electrophysiology and Heart Modeling Institute
2014-2019
Abstract CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. We demonstrate that homology-directed repair rare compared with NHEJ pathway leading on-target indels causing unwanted dysfunctional protein. Moreover, describe unexpected chromosomal truncations resulting from only one DSB in cell lines primary cells by p53-dependent mechanism....
The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI).To characterize effects of on cognitive, behavioral, medical, anthropometric traits to understand specificity these by systematically comparing results in carriers reciprocal deletion carriers, who are also at risk for ASD.This international cohort study 1006 participants compared 270 their 102...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1) identified pathogenic 45 (71%) patients. found high proportion ARID1B (68%). All four ARID1A appeared to be mosaic. By using all from Exome Variant Server as test data, we were able...
Summary Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation nystagmus, foveal hypoplasia, chiasmatic misrouting the optic nerves. The wide phenotypic heterogeneity impedes establishment phenotype–genotype correlations. To obtain precise diagnosis, we screened 19 known albinism genes in 990 index patients using targeted next‐generation sequencing ( NGS ) high‐resolution comparative genomic hybridization. A molecular diagnosis...
<h2>ABSTRACT</h2><h3>Purpose</h3> Pathogenic variants in ARID1B are one of the most frequent causes intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data representative for identified through unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic phenotypic differences between ARID1B-ID ARID1B-CSS. In...
Pathogenic variants in FLNC encoding filamin C have been firstly reported to cause myopathies, and were recently linked isolated cardiac phenotypes. Our aim was estimate the prevalence of pathogenic subtypes cardiomyopathies study relations between phenotype genotype. DNAs from a cohort 1150 unrelated index-patients with cardiomyopathy (700 hypertrophic, 300 dilated, 50 restrictive cardiomyopathies, 100 left ventricle non-compactions) sequenced on custom panel 51 disease-causing genes. An...
Abstract CRISPR-Cas9 is a promising technology for gene therapy. However, the ON-target genotoxicity of nuclease due to DNA double-strand breaks has received little attention and probably underestimated. Here we report that genome editing targeting globin genes induces megabase-scale losses heterozygosity (LOH) from cut-site telomere (5.2 Mb). In established lines, frequent terminal chromosome 11p truncations rare copy-neutral LOH. primary hematopoietic progenitor/stem cells, detect 1.1%...
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...
A family with dominant X-linked chondrodysplasia was previously described. The disease locus ascribed to a 24 Mb interval in Xp11.3–q13.1. We have identified variant (c.*281A>T) the 3′ untranslated region (UTR) of HDAC6 gene that totally segregates disease. is located seed sequence hsa-miR-433. Our data showed that, MG63 osteosarcoma cells, hsa-miR-433 (miR433) down-regulated both expression endogenous and an enhanced green fluorescent protein-reporter mRNA bearing wild-type 3′-UTR HDAC6....
Interleukin-2, which conveys essential signals for immunity, operates through a heterotrimeric receptor. Here we identify human interleukin-2 receptor (IL-2R) β chain (IL2RB) gene defects as cause of life-threatening immune dysregulation. We report three homozygous mutations in the IL2RB eight individuals from four consanguineous families that disease by distinct mechanisms. Nearly all patients presented with autoantibodies, hypergammaglobulinemia, bowel inflammation, dermatological...
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from deletion the distal part chromosome 22q13 that in most cases includes SHANK3 gene. considered major gene for PMS, but factors modulate severity remain largely unknown. In this study, we investigated 85 patients different rearrangements (78 deletions 7...
16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language cognitive impairment. In this multisite study, we aimed quantify effect of CNVs on brain structure.Using voxel- surface-based morphometric methods, analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 duplication, 212 without CNV.Beyond 16p11.2-related mirror global morphometry, observe regional...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. encodes sacsin, a protein whose function remains unknown, despite description numerous domains and recent focus on its potential role regulation mitochondrial physiology. This study aimed to identify new large population ataxic patients functionally analyze their cellular effects compartment. A total 321 index with selected from SPATAX network were analyzed direct sequencing gene, 156...
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....
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients identified in 11 12 novel genomic rearrangements (4 deletions 8 duplications) ranging size from 2.7 kb to 2.3 Mb. discuss the potential pathogenic role of these chromosomal aberrations, describe new candidate regions for OAVS.
Abstract Patients with a submicroscopic deletion at 1q43q44 present intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb and corpus callosum abnormalities. However, the precise relationship between most of deleted genes clinical features in these patients still remains unclear. We studied 11 unrelated 1q44 microdeletion. showed that deletions occurred de novo all for whom both parents' DNA was available (10/11). All presented moderate to severe ID, seizures...
The transition to pulmonary respiration after birth requires rapid alterations in the structure of mammalian cardiovascular system. One dramatic change that occurs is closure ductus arteriosus (DA), an arterial connection fetus directs blood flow away from circulation. Two members TGFβ family, bone morphogenetic protein 9 (BMP9) and BMP10, have been recently involved postnatal angiogenesis, both being necessary for remodeling newly formed microvascular beds. aim present work was study...
<h3>Background</h3> Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects vertebral malformations. Although numerous chromosomal abnormalities have been associated with OAVS, no causative gene has identified so far. <h3>Objectives</h3> We aimed to identify the for OAVS. <h3>Methods</h3> As sporadic cases are mostly described in...