A5006839343- Connective tissue disorders research
- Congenital heart defects research
- Protein Tyrosine Phosphatases
- Congenital limb and hand anomalies
- Bone fractures and treatments
- Immune Cell Function and Interaction
- Genomics and Rare Diseases
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Congenital Heart Disease Studies
- Genetics and Neurodevelopmental Disorders
- Hedgehog Signaling Pathway Studies
- Cancer Genomics and Diagnostics
- Head and Neck Anomalies
- Health, Education, and Physical Culture
- Spinal Hematomas and Complications
- Genomics and Chromatin Dynamics
- Protease and Inhibitor Mechanisms
- Atrial Fibrillation Management and Outcomes
- Genomic variations and chromosomal abnormalities
- Lipoproteins and Cardiovascular Health
- Genetic Neurodegenerative Diseases
- Gender Studies in Language
- Immigration and Intercultural Education
- Cardiac Valve Diseases and Treatments
Ghent University Hospital
2015-2023
Ghent University
2022
Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no phenotype emerged so far.We correlate clinical molecular data of 25 novel 23 previously reported patients FOXP1 defects. We evaluated activity by an vitro luciferase model assessed stability western blotting.Patients show ID, SLI, neuromotor delay (NMD) recurrent facial including a high broad...
The introduction of next-generation sequencing techniques has substantially increased the identification new genetic variants and hence necessity accurate variant interpretation. In 2015, American College Medical Genetics Genomics Association for Molecular Pathology proposed interpretation guidelines. Gene-specific characteristics were, however, not considered, sometimes leading to inconsistent interpretation.To allow a more uniform in FBN1 (fibrillin-1) gene, causing Marfan syndrome, we...
VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN and neurological impairment harboring homozygous p.E238K mutation in (vacuolar sorting protein 45). She successfully underwent hematopoietic stem cell transplantation. Our findings delineate the phenotype indicate possible genotype–phenotype correlation for involvement. © 2015 Wiley Periodicals, Inc.
Abstract Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So far, all molecularly confirmed cases harbored de novo heterozygous gain‐of‐function mutation in SMAD4 , encoding the transducer protein required for both transforming growth factor‐beta bone morphogenic proteins signaling. We report on...
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between lobe helix, known as "Question Mark Ear" (QME). Several additional features, originating from first second branchial arches other tissues, have also been reported. ACS genetically heterogeneous with autosomal dominant recessive modes of inheritance. The mutations identified to date are presumed dysregulate endothelin 1 signaling pathway. Here...
Pathogenic variants in
Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), genetic basis of isolated (ICHD) is complex, and underlying pathogenic mechanisms appear intricate incompletely understood. Next rare Mendelian conditions, somatic mosaicism or a complex multifactorial architecture assumed for ICHD. We performed exome sequencing (ES) 73 parent–offspring ICHD trios using proband DNA extracted from cardiac tissue. identified six...
Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding sequences directly or through interference of gene expression. Recent studies in cancer and limb defects pinpointed the relevance non-coding regulatory elements such as long RNAs (lncRNAs) topologically associated domain (TAD)-related gene-enhancer interactions. The contribution is largely unexplored congenital heart (CHD). We performed a retrospective analysis CNVs reported cohort 270 CHD patients. reviewed...
Tetralogy of Fallot (ToF) can be associated with a wide range extracardiac anomalies, an underlying etiology identified in approximately 10% cases. Individuals affected Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular including congenital heart defects. In addition two patients the literature ToF, we describe five additional individuals and classic ToF pulmonary atresia multiple aorto-pulmonary collaterals, absent valve. Aorta hypoplasia was documented one...
The medical history of a three-year-old boy with acute ataxia due to the opsoclonus-myoclonusataxia syndrome (short: opsoclonus-myoclonus (OMS)) is presented. further diagnostic investigation reveals an associated thoracic neuroblastoma. In children ataxia, diagnosis OMS rare, difficult and often unrecognized in beginning. half OMS, neuroblastoma present. Further for always indicated when set.
Abstract Background and aim: Noonan syndrome (NS) is associated with different types of heart defects which a supravalvular pulmonary stenosis ((SV)PS) the most frequent. Possible treatment options are percutaneous balloon valvuloplasty (BVP) or surgical intervention. Anatomical location PS may help predict BVP failure. We aimed to identify factors predicting outcome reintervention rate in PS, children NS. Methods : Medical records diagnosis NS follow-up at Antwerp- Ghent University...