Pascaline Létard
A5062028980- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
- Microtubule and mitosis dynamics
- RNA modifications and cancer
- Lysosomal Storage Disorders Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Carbohydrate Chemistry and Synthesis
- Genomics and Rare Diseases
- Glaucoma and retinal disorders
- Congenital Heart Disease Studies
- Neurogenesis and neuroplasticity mechanisms
- Cancer-related gene regulation
- Cellular transport and secretion
- Hypertrophic osteoarthropathy and related conditions
- Dermatological and Skeletal Disorders
- Congenital heart defects research
- Congenital limb and hand anomalies
- Connective tissue disorders research
- RNA Research and Splicing
- Cancer-related molecular mechanisms research
- RNA regulation and disease
Assistance Publique – Hôpitaux de Paris
2018-2025
Hôpital Robert-Debré
2019-2025
Université de Poitiers
2024
Centre Hospitalier Universitaire de Poitiers
2021-2024
Hôpital Jean-Verdier
2017-2021
Inserm
2017-2020
Université Paris Cité
2017-2020
Université Sorbonne Paris Nord
2017-2020
NeuroDiderot
2018-2020
Délégation Paris 7
2017-2020
Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the diagnosis rates of AMC, evaluate added value whole exome sequencing (WES) compared with targeted (TES) identify new genes 315 unrelated undiagnosed families. Methods Several genomic approaches used including mapping disease loci consanguineous families, TES then WES. Sanger was...
Autosomal recessive microcephaly or primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by reduction in brain volume, indirectly measured an occipitofrontal circumference (OFC) 2 standard deviations more below the age- and sex-matched mean (-2SD) at birth -3SD after 6 months, leading to intellectual disability of variable severity. The abnormal spindle-like gene (ASPM), human ortholog Drosophila melanogaster "abnormal spindle" (asp), encodes...
Genetic primary microcephaly (PM) is a defect in early brain development leading to congenital microcephaly, mostly recessively inherited, and mild-to-moderate intellectual disability. PM has been largely elucidated, thanks exome genome sequencing. However, radial microbrain, the most severe form of genetic or micrencephaly described 1980s, which leads lethality very handicap, remains without molecular diagnosis. We sought identify cause microbrain by analyzing genotype children/adults...
Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in congenital impairment brain growth. Despite the identification >25 causal genes so far, it remains challenge to distinguish between different MCPH forms at clinical level.7 patients with newly identified mutations CDK5RAP2 (MCPH3) were investigated by performing prospective, extensive systematic clinical, MRI, psychomotor, neurosensory...
Abstract Background In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological as well establishment expert centers clinical care patients with RD. Since 2007, most these have entered data developmental disorders into CEMARA population-based registry, national online repository all diseases. Through web portal, descriptive demographic data, and chronology medical follow-up can be obtained each center. We address interest...
EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B particular severity leading termination pregnancy. Cardinal signs this connective tissue were already seen during the second trimester pregnancy, then confirmed clarified at autopsy. Anomalies included laxa, arachnodactyly, clubfoot, wormian bones, moderate bowing long...
Trisomy 13 or Patau syndrome (PS) is a well‐known aneuploidy characterized by polymalformative syndrome. We described large series of fetuses with PS and compared them cases in the literature, most which were live‐born. In all, 42 fetuses, aged from 14 to 41 gestational weeks (GW), examined. The main defects observed similar those live‐born patients: congenital heart (76%), holoprosencephaly spectrum anomalies including arhinencephaly hypotelorism (74%), urinary tract (71%), ear (69%),...