Pascale Saugier‐Veber
A5008489646- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Adrenal Hormones and Disorders
- Fetal and Pediatric Neurological Disorders
- RNA Research and Splicing
- Autism Spectrum Disorder Research
- Prenatal Screening and Diagnostics
- Diabetes and associated disorders
- Hormonal Regulation and Hypertension
- Epigenetics and DNA Methylation
- Hedgehog Signaling Pathway Studies
- Cerebrospinal fluid and hydrocephalus
- Congenital Anomalies and Fetal Surgery
- Microtubule and mitosis dynamics
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- Genetic Syndromes and Imprinting
- Cellular transport and secretion
- Connective tissue disorders research
- Glycosylation and Glycoproteins Research
Université de Rouen Normandie
2016-2025
Inserm
2016-2025
Centre Hospitalier Universitaire de Lille
2010-2025
Centre Hospitalier Universitaire de Rouen
2009-2024
Normandie Université
2014-2024
Vall d'Hebron Institut de Recerca
2024
Universitat Autònoma de Barcelona
2024
Université Paris-Saclay
2024
Assistance Publique – Hôpitaux de Paris
2015-2024
Université de Versailles Saint-Quentin-en-Yvelines
2024
We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly abnormal genitalia (XLAG), and several female relatives isolated agenesis the corpus callosum (ACC). now report 13 novel two recurrent ARX, one nucleotide change uncertain significance 20 from 16 families. Most had XLAG, but hydranencephaly genitalia, three family Proud syndrome or ACC genitalia. obtained detailed clinical information on all 29 affected males, including previously reported subjects....
Frontotemporal dementia and parkinsonism (FTDP) is the second most common cause of neurodegenerative after Alzheimer's disease. Recently, several kindreds with an autosomal dominant form FTDP have been reported in some families pathological locus was mapped to a 2 cM interval on 17q21–22. The MAPT gene, located 17q21 coding for human microtubule-associated protein tau, strong candidate since tau-positive neuronal inclusions observed brains from patients. Direct sequencing exonic sequences 21...
<h3>Background</h3> Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. <h3>Method</h3> Molecular karyotyping of six retardation was carried out using whole-genome oligonucleotide array-CGH. <h3>Results</h3> 5q14.3 microdeletions ranging from 216 kb 8.8 Mb were detected five unrelated following phenotypic similarities: severe absent speech,...
<h3>Background:</h3> The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. <h3>Aim:</h3> We report the molecular and/or clinical characterisation of 22 individuals syndrome. <h3>Results:</h3> estimate prevalence to be 1 16 000 and show it highly underdiagnosed. Extensive examination reveals developmental delay, hypotonia, facial dysmorphisms...
Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole exome sequencing (WES) were performed in 31 and/or consanguineous undiagnosed AMC families. Although this approach identified known genes, we here report pathogenic mutations two new genes. Homozygous frameshift CNTNAP1 found four unrelated Patients showed a marked reduction motor nerve conduction velocity (<10 m/s)...
Abstract X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia is a newly recognized syndrome responsible for severe neurological disorder of neonatal onset in boys. Based on the observations 3 new cases, we confirm phenotype affected boys, describe additional MRI findings, report neuropathological data, show that carrier females may exhibit magnetic resonance imaging abnormalities. In consistent clinical features are intractable epilepsy onset, hypotonia, poor...
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...
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...
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical molecular study of 39 patients affected syndrome. Among them, 19 were diagnosed after the detection 16q24.3 deletion encompassing gene array CGH. In 20 remaining patients, suspicion was confirmed identification an mutation direct sequencing. present arguments modulate previously reported diagnostic criteria. Macrodontia...
Incomplete penetrance is observed for most monogenic diseases. However, neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants (SNV/MNVs) usually based on paradigm complete penetrance. From 2020 to 2022, we proposed a collaboration study with French molecular diagnosis intellectual disability network. The aim was recruit families whom index case, diagnosed disorder, carrying pathogenic or likely variant an OMIM morbid gene inherited from asymptomatic parent....
<h3>Background</h3> Heterozygous <i>NSD1</i> mutations were identified in 60%–90% of patients with Sotos syndrome. Recently, the <i>SETD2</i> and <i>DNMT3A</i> genes exhibiting only some syndrome features. Both encode epigenetic 'writer' proteins that catalyse methylation histone 3 lysine 36 (H3K36me). The gene encodes an 'reader' protein H3K36me chromatin mark. <h3>Methods</h3> We aimed at confirming implication overgrowth phenotype, through a comprehensive targeted-next generation...
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...
Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the loss or presence of point pathogenic variants in