Lyse Ruaud
A5070494242- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetic and Kidney Cyst Diseases
- RNA modifications and cancer
- Congenital heart defects research
- Hereditary Neurological Disorders
- Hedgehog Signaling Pathway Studies
- Vascular Malformations Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Moyamoya disease diagnosis and treatment
- RNA regulation and disease
- Glycosylation and Glycoproteins Research
- RNA and protein synthesis mechanisms
- Prenatal Screening and Diagnostics
- Signaling Pathways in Disease
- Genetic factors in colorectal cancer
- Biomedical Research and Pathophysiology
- Health, Environment, Cognitive Aging
- Down syndrome and intellectual disability research
- Sympathectomy and Hyperhidrosis Treatments
- Eosinophilic Disorders and Syndromes
- Health Systems, Economic Evaluations, Quality of Life
Hôpital Robert-Debré
2019-2024
Assistance Publique – Hôpitaux de Paris
2019-2024
Inserm
2019-2024
Université Paris Cité
2019-2024
NeuroDiderot
2019-2024
Délégation Paris 7
2019-2024
Université de franche-comté
2018-2019
Centre Hospitalier Universitaire de Besançon
2015-2016
Several genes have been implicated in Rett syndrome (RTT) its typical and variant forms. We applied next-generation sequencing (NGS) to evaluate for mutations known or new candidate patients with forms of Rett-like phenotypes unknown molecular aetiology. In the first step, we used NGS a custom panel including MECP2, CDKL5, FOXG1, MEF2C IQSEC2. addition FOXG1 mutation patient all core features congenital RTT, identified missense (p.Ser240Thr) CDKL5 who appeared be seizure free. This was...
Complete deletion of the
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...
Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech language deficits have been identified as a manifestation of BRPF1-related disorder but not systematically characterized. We provide comprehensive delineation speech abilities expand the phenotype. language, health medical history were assessed 15 participants (male = 10, median age 7 years 4 months) with 14 variants. Language disorders common (11/12), most had mild to moderate across receptive,...
Background Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( DNMT3A )-overgrowth (DOS), was first described by Tatton-Brown in 2014. This is characterised overgrowth, intellectual disability and distinctive facial features the consequence of germline loss-of-function variants , which encodes a involved epigenetic regulation. Somatic are frequently observed haematological malignancies, including acute myeloid leukaemia (AML). To date, 100...
Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or point mutations in the RAI1 gene. In this retrospective cohort, we studied clinical, cognitive, behavioral profile 47 European patients with SMS caused a deletion. We update clinical neurobehavioral SMS. Intrauterine growth was normal most patients. Prenatal anomalies were reported 15%. 60% our older than 10...
The X-linked PTCHD1 gene, encoding a synaptic membrane protein, has been involved in neurodevelopmental disorders with the description of deleterious genomic microdeletions or truncating coding mutations. Missense variants were also identified, however, without any functional evidence supporting their pathogenicity level. We investigated 13 missense PTCHD1, including eight previously described (c.152G>A,p.(Ser51Asn); c.217C>T,p.(Leu73Phe); c.517A>G,p.(Ile173Val); c.542A>C,p.(Lys181Thr);...
We describe progressive spastic paraparesis in two male siblings and the daughter of one these individuals. Onset disease occurred within first decade, with stiffness gait difficulties. Brisk deep tendon reflexes extensor plantar responses were present, absence intellectual disability or dermatological manifestations. Cerebral imaging identified intracranial calcification all symptomatic family members. A marked upregulation interferon-stimulated gene transcripts was recorded three affected...
Abstract The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo‐vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel–Feil syndrome posterior malformation. is involved the determination rostro‐caudal polarity somite patterning during development. To date, only four cases have been reported. current report aims at further delineating three new patients. Three...
Ephrin receptor and their ligands, the ephrins, are widely expressed in developing brain. They implicated several developmental processes that crucial for brain development. Deletions genes encoding members of Eph/ephrin family were reported neurodevelopmental disorders. The ephrin A7 gene (EPHA7) encodes a member subfamily protein-tyrosine kinase family. EPHA7 plays role corticogenesis processes, determines size shape, is involved development central nervous system. One patient only was so...
Aim To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 ( WDR62 ) ‐ related primary microcephaly. Method In this observational study, we describe neurological, cognitive, brain imaging characteristics 17 (six males, 11 females; mean age 12y 3mo standard deviation [SD] 5y 8mo, range 5y–24y 6mo) identify 14 new variants . We similarly analyse phenotypes genotypes 59 previously reported families. Results Brain malformations,...
Abstract Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN ‐related hamartoma tumor syndrome (PHTS). However, PHTS‐associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a pathogenic variant identified between 2007 and 2020 our laboratory ( n = 58), for whom brain imaging was available. Two patients had (2/58, 3.4%), both presenting at advanced stages: 34‐year‐old man left lateral sinus immediate...
Abstract ZNHIT3 (zinc finger HIT type containing protein 3) is an evolutionarily conserved required for ribosome biogenesis by mediating the assembly of small nucleolar RNAs (snoRNAs) class C/D into ribonucleoprotein complexes (snoRNPs). Missense mutations in gene encoding have been previously reported to cause PEHO syndrome, a severe neurodevelopmental disorder typically presenting after birth. We discuss here case two fetuses from single family who presented with isolated hydrops during...
Ciliopathies are rare genetic disorders caused by dysfunction of the primary or motile cilia. Their mode inheritance is mostly autosomal recessive with biallelic pathogenic variants inherited from parents. However, exceptions exist such as uniparental disomy (UPD) appearance a de novo variant in trans an variant. These two mechanisms expected to be extremely rare, and few data available literature, especially regarding ciliopathies. In this study, we investigated 940 individuals (812...