Salima El Chehadeh
A5060937755- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- RNA modifications and cancer
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Prenatal Screening and Diagnostics
- Epilepsy research and treatment
- Hedgehog Signaling Pathway Studies
- Immunodeficiency and Autoimmune Disorders
- Peptidase Inhibition and Analysis
- Tumors and Oncological Cases
- Genetic Syndromes and Imprinting
- Peroxisome Proliferator-Activated Receptors
- Blood disorders and treatments
- Genomics and Chromatin Dynamics
- Genetic and Kidney Cyst Diseases
- Glycosylation and Glycoproteins Research
- RNA regulation and disease
- Vascular Malformations Diagnosis and Treatment
- Wnt/β-catenin signaling in development and cancer
- Congenital Ear and Nasal Anomalies
- Autism Spectrum Disorder Research
Hôpitaux Universitaires de Strasbourg
2016-2025
Hôpital d'Hautepierre
2017-2024
Institut de génétique et de biologie moléculaire et cellulaire
2021-2023
Laboratoire de Génétique Médicale
2023
Collaborative Group (United States)
2023
Inserm
2014-2023
University of Zurich
2023
Institut des Maladies Génétiques Imagine
2023
Université de Bourgogne
2013-2023
Université de Strasbourg
2021-2022
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...
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have published. We aimed to better describe phenotype of this condition, focus on morphological neurological features. Through national collaborative study, we report large French 59 affected males interstitial duplication. Most (93%) shared...
PUF60 encodes a nucleic acid-binding protein, component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions chromosome 8q24.3 including were found to have developmental delay, microcephaly, craniofacial, renal cardiac defects. Very similar phenotypes been described in six variants PUF60, suggesting that it underlies the syndrome. We report 12 additional who ascertained using exome sequencing: through Deciphering Developmental Disorders...
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 Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting reduced or complete loss-of-function (LOF) of encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype both males females. Through international clinical matchmaking interrogation public variant databases we assembled database 90 rare missense families: 41 unique 18 recurrent 49 families. For 43 families, including 22 33 females, collated detailed...
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the clinical molecular spectrum of -related by describing 31 novel individuals harboring 22 different variants. We analyzed newly identified as well previously reported in order to define frequency key features these disorders. Specifically,...
Abstract Objective We aimed to delineate the phenotypic spectrum and long‐term outcome of individuals with KCNB1 encephalopathy. Methods collected genetic, clinical, electroencephalographic, imaging data pathogenic variants recruited through an international collaboration, support family association “KCNB1 France.” Patients were classified as having developmental epileptic encephalopathy (DEE) or (DE). In addition, we reviewed published cases provided in patients older than 12 years from our...
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...
Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies help patients with unresolved rare diseases, especially clinically diagnosed a OMIM (Online Mendelian Inheritance in Man) disease. However, no consensus exists regarding the optimal care pathway adopt after negative results standard approaches. Methods: In 15 unsolved individuals recognizable diseases but or inconclusive first-line genetic...
Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the FGD1 gene. Its description was based mostly on old case reports, whom molecular diagnosis not always available, or small series. The aim of this study to better delineate phenotype and natural history AAS provide clues for management patients. Phenotypic characterisation largest reported cohort, comprising 111 male patients proven causative FGD1, through comprehensive...
Recently, de novo variants in an 18 nucleotide region the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted affect tens thousands individuals worldwide. non-protein-coding gene transcribed into U4 small nuclear RNA (snRNA) component major spliceosome. syndrome disrupt spliceosome function and alter 5' splice site selection. Here, we performed saturation genome editing (SGE) identify functional clinical impact across entire...
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants 50 snRNA-encoding genes French cohort of 23,649 individuals with rare disorders gathered additional cases through international collaborations. Altogether, we identified 145 previously unreported probands (likely) pathogenic RNU4-2 21 and/or recurrent RNU5B-1...