A5013979434- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Corneal surgery and disorders
- Muscle Physiology and Disorders
- RNA Research and Splicing
- Liver Disease Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Connective tissue disorders research
- Congenital Heart Disease Studies
- Pediatric Hepatobiliary Diseases and Treatments
- Genetic Syndromes and Imprinting
- Gallbladder and Bile Duct Disorders
- RNA modifications and cancer
- Neurological and metabolic disorders
- Diet and metabolism studies
- Sexual Differentiation and Disorders
- Biliary and Gastrointestinal Fistulas
- Gastrointestinal disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Cardiac Arrhythmias and Treatments
- Prenatal Screening and Diagnostics
- Neonatal Health and Biochemistry
- Neurogenetic and Muscular Disorders Research
- Liver Disease and Transplantation
Gdańsk Medical University
2016-2025
ORCID
2021
Erasmus University Rotterdam
2021
University of Zurich
2021
Washington Center
2014
University of Washington
2014
University of Gdańsk
2013
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease.Mutations in NIPBL, encoding cohesin regulatory protein, account for >80% of cases typical facies.Mutations the core complex proteins, encoded by SMC1A, SMC3 RAD21 genes, together ∼5% subjects, often atypical CdLS features.Recently, we identified mutations X-linked gene HDAC8 as cause small number...
SMC1A encodes one of the proteins cohesin complex. variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing in individuals with encephalopathy epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 for physical and behavioral characteristics, compare results those 67 NIPBL variants. For Netherlands all were studied, both without CdLS phenotype. Individuals can CdLS, but...
PurposeHaploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants lead altered endosomal F-actin polymerization dysregulated protein recycling.MethodsWe report 16 newly...
Duchenne muscular dystrophy is a genetic disease characterized by gradual loss of motor function, respiratory failure and cardiomyopathy. During the time global coronavirus pandemic, maintenance social distancing self-isolation might complicate regular multidisciplinary care patients with but on other hand may lead to new medical telehealth solutions. The aim study was investigate patients' situation regarding rehabilitation in establish an online program assessment determine needs...
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that can model in zebrafish. The patient phenotypic spectrum includes delay/intellectual disability, hypotonia, distinct craniofacial features variable presence brain, renal, cardiac musculoskeletal...
Noonan syndrome (NS) is a common developmental disorder presenting with dysmorphic craniofacial features, heart defects, and short stature. It belongs to the group of RASopathies caused by germline mutations in genes encoding proteins involved RAS/MAPK signaling pathway. Although nine are known cause NS, approximately 30% cases still have unexplained etiology. To identify new causative genes, 42 patients clinical diagnosis who had negative results on Sanger sequencing PTPN11 , SOS1 RAF1 (the...
Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry variant in one the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 HDAC8. Herein we report on clinical molecular characterization 11 carrying 10 distinct variants Given high number identified so far, advise sequencing HDAC8 as an indispensable part routine diagnostic for with CdLS...
Abstract Context Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated being underweight having cardiovascular dysfunction. Objective Our previous trial showed improvement of key clinical biochemical features during 1-year treatment the T3 analogue Triac, but long-term follow-up data are needed. Methods In this real-life retrospective cohort study, we investigated efficacy Triac MCT8-deficient patients 33 sites. The primary...
Background: Maternal phenylketonuria (PKU), a metabolic disorder caused by defective phenylalanine hydroxylase activity, requires strict lifelong dietary management to prevent toxic accumulation. During pregnancy, non-adherence low-phenylalanine diet can lead maternal PKU syndrome, resulting in severe neonatal complications, including microcephaly, congenital heart defects, and growth restrictions. Despite advances preconception care guidelines, adherence remains significant challenge,...
Abstract Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, multiple organ defects. Mutations in the NIPBL gene have been discovered recently as major etiology for this syndrome, were detected 27–56% of patients. Two groups found significant differences severity or penetrance some phenotypes between mutation positive negative...
Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four died before 5 years age, survivors showed a severe psychomotor retardation. We report on 7 with delay, microcephaly, strabismus coagulation abnormalities, seizures abnormal fat distribution. children had stable clinical course, two...
The aim of the study was to assess both patients’ and their parents’ knowledge phenylketonuria (PKU) treatment compliance with PKU diet. included 173 patients aged 10–19 110 parents children who were enrolled in on basis questionnaire data. also 45 ≥20. Our demonstrated that only 45% (n = 74) knew daily Phe intake recommendations, 27% 41) content a minimum three out four researched food products. Patients’ concerning (p 0.0181) selected products 0.041819) improved age. We did not establish...
Marfan syndrome (MFS) is a connective tissue disorder characterized by broad range of clinical manifestations. Cardiovascular involvement the most life-threatening aspect syndrome. Although abnormalities within cardiovascular system in adults are well documented, there still paucity data regarding manifestation MFS childhood. The aim study was to compare between children and adults. population consisted 236 patients (144 92 adults), who were referred our department with suspicion MFS. All...
Recently, progress has been observed in the knowledge about Duchenne Muscular Dystrophy (DMD), which is a severe and commonly diagnosed genetic myopathy childhood, historically resulting early death. Currently, there are lot of methods available to improve clinical course DMD extend patients’ life expectancy more than 30 years age. The key issue for patients period between 16–18 age, described as transition from pediatric- adult-oriented healthcare. Adolescents adults with have highly...
We report the results of detailed clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Classical cytogenetics fluorescence situ hybridization (FISH) analysis 18 painting probe identified five non-mosaic two complex mosaic 46,XX,dup(18)(p11.2)/47,XX,dup(18)(p11.2),+r(18) 46,XX,dup(18)(p11.32)/47,XX,dup(18)(p11.32),+r(18) cases. FISH was performed for precise characterization breakpoints using 18-specific short-arm paint, centromeric, subtelomeric, a panel...
Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency estimated 1 in 3,000 newborns. Etiopathogenesis of arthrogryposis multifactorial. We report first 26 weeks life a boy with severe arthrogryposis. Owing to the integrated rehabilitation approach and orthopaedic treatment visible improvement range motion as well functionality child was...
Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found patients with CdLS. In about 60% patients, mutations NIPBL could be identified. Interestingly, 17% them are...
We report the results of detailed clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Classical cytogenetics fluorescence situ hybridization (FISH) analysis 18 painting probe identified five non-mosaic two complex mosaic 46,XX,dup(18)(p11.2)/47,XX,dup(18)(p11.2),+r(18) 46,XX,dup(18)(p11.32)/47,XX,dup(18)(p11.32),+r(18) cases. FISH was performed for precise characterization breakpoints using 18-specific short-arm paint, centromeric, subtelomeric, a panel...
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with features resembling syndrome who eventually diagnosed disorders affecting other chromosomal regions. The objective this study was evaluate additive value high-resolution array-CGH...