Julie Désir
A5085115714- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Microtubule and mitosis dynamics
- Connective tissue disorders research
- Reproductive Biology and Fertility
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Ubiquitin and proteasome pathways
- Congenital heart defects research
- Parvovirus B19 Infection Studies
- Sexual Differentiation and Disorders
- Ion Transport and Channel Regulation
- Craniofacial Disorders and Treatments
- Pancreatic function and diabetes
- Hedgehog Signaling Pathway Studies
- Reproductive System and Pregnancy
- Medical Coding and Health Information
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Vascular Malformations and Hemangiomas
- Congenital Ear and Nasal Anomalies
- demographic modeling and climate adaptation
- Amino Acid Enzymes and Metabolism
Institute of Pathology and Genetics
2014-2025
Boston Children's Hospital
2024
Broad Institute
2024
Université Libre de Bruxelles
2013-2023
Universitair Ziekenhuis Leuven
2021-2023
KU Leuven
2021-2023
Ghent University Hospital
2021-2023
Université Paris Cité
2023
Universitair Ziekenhuis Brussel
2023
Erasmus Hospital
2012-2022
Capillary malformation–arteriovenous malformation (CM–AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs high risk for fast-flow lesions. A limited number of patients have been reported, raising the question phenotypic borders. We identified new with a clinical diagnosis CM–AVM, overlapping phenotypes. was screened in 261 index with: CM–AVM (n = 100), common CM(s) (port-wine stain; n Sturge–Weber syndrome 37), or isolated AVM(s)...
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 over 40 monogenic genes can be detected approximately 30% individuals with SRNS whose symptoms manifest before 25 years age. However, many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive SRNS. In 7 families and facultative ichthyosis, adrenal insufficiency, immunodeficiency, neurological defects, identified 9 different...
Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital endothelial progressive deafness, is transmitted as an autosomal recessive trait. CDPD recessive, non-syndromic hereditary (CHED2) both map at overlapping loci 20p13, mutations SLC4A11 were reported recently in CHED2. A genotype study on six families with one family either CHED CDPD, from various ethnic backgrounds (in the seventh family, hearing loss could not be assessed because proband's young...
The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms arterial tortuosity, hypertelorism, bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 TGFBR2) were described to cause LDS, hereby leading impaired TGF-β signaling. More recently, ligands, TGFB2 TGFB3, as well intracellular downstream effectors of...
We describe a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability in large consanguineous family three affected children. Linkage analysis whole exome sequencing were used to identify the causal nonsense mutation, which changed an arginine codon into stop at position 127 tRNA methyltransferase homolog gene TRMT10A (also called RG9MTD2). mRNA protein absent lymphoblasts from siblings. is ubiquitously expressed but enriched brain pancreatic islets,...
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no other neurological feature nor malformation. Here, we report mutation CASC5 (aka Blinkin, KNL1, hSPC105) in MCPH patients from three consanguineous families, one which initially MCPH4 locus. The combined...
We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent autosomal recessive inheritance, to describe the phenotype and identify causal gene.We recorded clinical course of disease response drug therapy, whereas carefully excluding known causes epilepsy. then linked by homozygosity mapping using microsatellite markers single nucleotide polymorphism microarrays (11K GeneChip), studied candidate genes in critical linkage region.Epilepsy started...
The latent TGFβ-binding proteins (LTBPs) and fibrillins are a superfamily of large, multidomain with structural TGFβ-signalling roles in the extracellular matrix. Their importance is underscored by fibrillin-1 mutations responsible for Marfan syndrome, but their respective still incompletely understood. We report here on two families where children from healthy, consanguineous parents, presented megalocornea impaired vision associated small, round, dislocated lenses (microspherophakia...
Severe acute respiratory syndrome (SARS) runs a more benign course in children during the phase. Infants born to mothers with disease did not acquire infection through vertical transmission. The treatment strategy for SARS has been standardised and is based on adult experience. Thus far, no deaths have reported paediatric age group. Exercise impairment residual radiological abnormalities were present six months after diagnosis. It important assess these patients regular basis detect provide...
<h3>Background</h3> Human congenital non-syndromic hydrocephalus is a vastly heterogeneous condition. A subgroup of cases are not secondary to specific cause (eg, neural tube defect), and within this subgroup, autosomal recessive inheritance has been described. One homozygous mutation in the DAPLE (Dvl-associating protein with high frequency leucine residues) protein-encoding gene CCDC88C (coiled-coil domain containing 88C) recently reported single family. The role validated another family,...
GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for neurotransmitter L-glutamate (Glu). AMPA (AMPARs) homo- or heteromeric protein complexes with four subunits, each encoded by different genes, to GRIA4. Although GluA1-containing AMPARs have a crucial role in brain function, human phenotype associated deleterious sequence variants has not been established. Subjects de...
Abstract Background and purpose Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye skin. SWS commonly caused somatic mutations in G protein subunit Alpha Q ( GNAQ ). Five cases of s ubunit 11 GNA11 ) have been reported. We studied phenotypic features GNA11‐SWS compared them with those classic SWS. Methods Within two European multidisciplinary centers we looked for patients characteristics mutation. Clinical radiological...
Abstract Primary microcephaly is a disorder of brain development characterized by congenitally small but normally formed brain, and non‐progressive mild‐to‐moderate mental retardation. Most cases are inherited in an autosomal recessive pattern, with genetic heterogeneity, the ASPM locus being most common. Postnatal imaging data scarce prenatal unreported. Microcephaly simplified gyral pattern shares features primary microcephaly, it not clear whether these disorders part phenotypic...
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...
X-chromosome exome sequencing was performed to identify the genetic cause of syndromic intellectual disability in two unrelated families with suspected X-linked inheritance. In both families, affected males presented severe disability, microcephaly, growth retardation, and epilepsy. A missense mutation (c.777T>G p.(Ile259Met)) a frameshift (c.1394_1397del p.(Ile465Serfs*4)) were identified EIF2S3 gene hemizygous state patients, heterozygous states female obligate carriers. EIF2S3, coding for...
Purpose:To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods:We coupled phenotyping with exome or genome sequencing of 467 probands (550 affected 1108 total individuals) genetically oCCDDs, integrating analyses pedigrees, human animal model phenotypes, de novo variants to rare candidate single nucleotide variants, insertion/deletions, structural disrupting protein-coding regions.Prioritized were...
Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, advanced carpal ossification. Two forms have been distinguished on the basis of presence (type 1) or absence 2) characteristic hand anomalies. We identified mutations in calcium activated nucleotidase 1 gene (CANT1) DD type 1. Recently, CANT1 reported Kim variant DD, metacarpals elongated phalanges. has overlapping features with spondyloepiphyseal congenital joint dislocations (SDCD)...