Yves Sznajer
A5080302809- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Galectins and Cancer Biology
- Genomics and Rare Diseases
- Protein Tyrosine Phosphatases
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Congenital Ear and Nasal Anomalies
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- RNA Research and Splicing
- Cleft Lip and Palate Research
- Coenzyme Q10 studies and effects
- Neurogenetic and Muscular Disorders Research
- Craniofacial Disorders and Treatments
- Lymphatic System and Diseases
- Amino Acid Enzymes and Metabolism
- Congenital Anomalies and Fetal Surgery
- Congenital heart defects research
- Skin and Cellular Biology Research
- Tuberous Sclerosis Complex Research
- Tracheal and airway disorders
- RNA and protein synthesis mechanisms
Cliniques Universitaires Saint-Luc
2015-2024
UCLouvain
2012-2021
Community Link
2021
Universitair Ziekenhuis Leuven
2021
Antwerp University Hospital
2021
KU Leuven
2021
Ghent University Hospital
2021
Institute of Pathology and Genetics
2021
University of Antwerp
2021
Hudson Institute
2018-2020
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...
<h3>Background</h3> Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview phenotype, genotype and phenotype–genotype correlation has lacking. <h3>Methods</h3> We performed retrospective study clinical, biochemical molecular genetic data 101 males with creatine from 85 families pathogenic mutation the gene (<i>SLC6A8</i>). <h3>Results conclusions</h3> Most patients...
<h2>Abstract</h2><h3>Purpose</h3> <i>ABCA4</i>-associated disease, a recessive retinal dystrophy, is hallmarked by large proportion of patients with only one pathogenic <i>ABCA4</i> variant, suggestive for missing heritability. <h3>Methods</h3> By locus-specific analysis <i>ABCA4</i>, combined extensive functional studies, we aimed to unravel the alleles in cohort 67 (<i>p</i>), (<i>p</i> = 64) or no 3) identified coding variants <i>ABCA4</i>. <h3>Results</h3> We eight (deep-)intronic splice...
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder the lung defined by constellation characteristic histopathological features. Nonpulmonary anomalies involving organs gastrointestinal, cardiovascular, genitourinary systems have been identified in approximately 80% patients ACD/MPV. We collected DNA pathological samples from more than 90 infants ACD/MPV their family members. Since publication our initial report four point...
Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated accounts for clinical presentations, making genotype-phenotype correlations major challenge the field. While polyglutamine ataxias, linked to CAG repeat expansions such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, been extensively characterized cohorts, there is need comprehensive assessment frequency phenotype more...
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and heterogeneity means that a diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups disease patients better understand etiology.Exome sequencing was applied 1001 undiagnosed recruited from more than 40 neuromuscular referral centers; standardized phenotypic information collected for each patient. Exomes were examined variants in 429 genes associated...
PurposePhenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.MethodsHere, we introduce an approach driven artificial intelligence that uses portrait photographs exome data. We measured value added computer-assisted image analysis to diagnostic yield on a cohort consisting 679 individuals with 105 different monogenic disorders. For each case in...
Abstract In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of inheritance have been described the neuromuscular disease field. Here we show that predicted deleterious SRPK3 , encoding X-linked serine/argenine protein kinase 3, lead a progressive early onset skeletal muscle myopathy only when combination with heterozygous TTN gene. The co-occurrence / was not seen among 76,702 healthy male individuals, and statistical...
Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 defined by the presence of mutation in PTPN11 gene, which found approximately 40% cases. Phenotype descriptions and cardiac defects from cohorts with were delineated "pregenomic era." We report heart links to gene dysfunction development large cohort patients type syndrome.This was retrospective, multicenter study based on clinical history, pictures, medical cardiologic workup over time. Data...
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...
Introduction. Familial renal glucosuria (FRG) is a rare tubular disorder caused by mutations within the SLC5A2 gene. It characterized persistent in absence of hyperglycaemia and any other signs generalized dysfunction. In small series patients previously reported, molecular phenotypic findings FRG families, including first hints extracellular volume depletion activation renin–angiotensin–aldosterone system induced natriuresis, have been described. We now extended this analysis to another 21...
Abstract Purpose To evaluate cerebral amyloid-β(Aβ) pathology in older adults with cognitive complaints, visual assessment of PET images is approved as the routine method for image interpretation. In research studies however, Aβ-PET semi-quantitative measures are associated greater risk progression to dementia; but until recently, these lacked standardization. Therefore, Centiloid scale, providing standardized semi-quantitation, was recently validated. We aimed determine predictive values...
CHARGE syndrome (OMIM #214800) is a multiple malformation with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA binding 7) haploinsufficiency. Familial occurrence rare. We report six patients from two Caucasian families (both one parent and children) affected by mild to severe syndrome. Direct sequencing the gene was performed in these unrelated families. A mutation exon 8 (c.2501C>T - p.S834F) first chromodomain found family nonsense 2 (c.469C>T p.R157X)...
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...
To determine the diagnostic value of massive parallel sequencing a panel known cardiac genes in familial nonsyndromic congenital heart defects (CHD), targeted coding regions 57 previously implicated CHD was performed 36 patients from 13 families with probable autosomal dominant inheritance. Following variant analysis and Sanger validation, we identified six potential disease causing variants three (MYH6, NOTCH1, TBX5), which may explain families. Several problematic situations were...
Abstract Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11 , KRAS SOS1 and RAF1 . We performed SOS1, RAF1, BRAF, MEK1 MEK2 mutation analysis a cohort of 102 ‐ ‐negative NS patients found pathogenic 10, 4, BRAF 2 patients. Three novel were found. One was classified as rare benign variant the other remains unclassified. confirm high prevalence pulmonic stenosis ectodermal abnormalities ‐positive with presented tumors (embryonal rhabdomyosarcoma, Sertoli cell...