A5080430923- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genomics and Rare Diseases
- Neurofibromatosis and Schwannoma Cases
- Tuberous Sclerosis Complex Research
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Cleft Lip and Palate Research
- Mitochondrial Function and Pathology
- Craniofacial Disorders and Treatments
- Muscle Physiology and Disorders
- Autism Spectrum Disorder Research
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
- Genetic Neurodegenerative Diseases
- Soft tissue tumor case studies
- Chromosomal and Genetic Variations
- Romani and Gypsy Studies
- Sarcoma Diagnosis and Treatment
- Renal and related cancers
- Neuroblastoma Research and Treatments
- BRCA gene mutations in cancer
- Epilepsy research and treatment
- Hearing, Cochlea, Tinnitus, Genetics
University of Pecs
2016-2025
GTx (United States)
2019
Szent János Kórház
2015-2017
Somogy Megyei Kaposi Mór Oktató Kórház
2017
Phelan-McDermid syndrome (PMS) is an infrequently described that presents with a disturbed development, neurological and psychiatric characteristics, sometimes other comorbidities. As part of the development European medical guidelines we studied definition, phenotype, genotype-phenotype natural history syndrome. The number confirmed diagnoses PMS in different countries was also assessed it could be concluded underdiagnosed. incidence estimated to at least 1 30,000. Next generation...
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG SGCD genes. In 2016, several clinicians involved diagnosis, management care patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim present study was to determine clinical genetic spectrum large cohort sarcoglycanopathy Europe. This an observational retrospective...
Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 major causative gene. In addition, CDKL5 FOXG1 mutations have been reported patients, especially with atypical presentation. Each gene different within each contribute to variability clinical presentation, several groups worldwide performed genotype-phenotype correlation studies using cohorts patients classic forms disorder. The Networked Database...
Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft hard tissue tumors. Dental anomalies are present in approximately 30%-70% of patients with can be discovered during routine dental examinations. However, sometimes the diagnosis challenging due to high clinical variability incomplete picture. Herein, we report family various bone anomalies, which definitive was established help comprehensive analysis based on...
Background: Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the NF1 gene. Although genotype–phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. Methods: We conducted retrospective analysis of data obtained from cohort 204 Hungarian individuals, with mean age 16 years (age range: 1–33 years). The were collected over 15 years. Results: Among patients, 148 subjects fulfilled ≥2 criteria...
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on organization for individuals with PMS. We indicate that should consider domains, which can be done within framework International Classification Functioning, Disability Health (ICF). This assesses disability functioning as outcome individual's interactions other factors. different roles care, such...
Abstract Background Facial angiofibromas (FAs) are a major feature of tuberous sclerosis complex (TSC). Topical rapamycin can successfully treat FAs. A new stabilized cream formulation that protects from oxidation has been developed in 0.5% and 1% concentrations. Objectives To assess the efficacy safety novel, topical formulation. Methods This multicentre double-blind randomized placebo-controlled dose–response phase II/III study with parallel design included participants aged 6–65 years FAs...
In a case-control study the role of hyponatremia in hearing loss preterm infants was investigated. One hundred and sixty-four premature treated at neonatal intensive care unit were screened with transient evoked otoacoustic emission (TEAOE). 32 TEAOE results indicated need for further investigations. Auditory brainstem response performed 22 cases had bilateral impairment (HI). The birth weight gestational age HI group 1,425 ± 528 g 30.4 3.7 weeks. matched control consisted 25 mean 1,410 280...
Frontometaphyseal dysplasia (FMD) is caused by gain‐of‐function mutations in the X‐linked gene FLNA approximately 50% of patients. Recently we characterized an autosomal dominant form FMD (AD‐FMD) MAP3K7 , which accounts for condition majority patients who lack a mutation. We previously also described patient with de novo variant TAB2 hypothesized was causative another AD‐FMD. In this study, cohort 20 individuals AD‐FMD clinically evaluated. This consists 15 recently described, recurrent...
Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Roma and suggested that source South Asian ancestry in originates most likely from Northwest region India. In this study, also SNP data, we attempted to refine these findings using significantly larger number European samples, an extended dataset Indian groups involving Pakistani into analyses. Our contained 179 samples. consisted 51 distinct ethnic groups, which provided...
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG SGCD genes. Delta-sarcoglycanopathy (LGMDR6) is least frequent considered an ultra-rare disease. Our aim was to characterize clinical genetic spectrum a large international cohort LGMDR6 patients investigate whether or not protein expression data could predict disease's severity. This...
Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial - brachy(micro)cephaly, unusual shaped eyebrows, flat face hypertelorism, short nose anteverted nostrils, thickened lower lip, carpmouth macroglossia and childhood hypotonia. Some additional symptoms are observed in different percentage of the patients. Epilepsy common symptom as well. The underlying cause submicroscopic deletion...
Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations NF1 gene, large deletions encompassing gene and its flanking regions are responsible for development of variable clinical phenotype. These titled as microdeletions lead to more severe phenotype than those observed patients with mutations. Around 5-10% cases harbor deletion four major types (type 1, 2, 3 atypical) have been identified so far....
Beta-tubulin 4B isotype is one of the subunits microtubules encoded by TUBB4B gene on chromosome 9, which responsible for maintenance microtubule stability. In humans, mutations in microtubule-encoding genes have been associated with several tubulinopathies very heterogeneous symptoms. So far, only two missense found to pathological implications this disorder. Here we report a Hungarian family three affected members, mother and her 12- 14-year-old children, who suffer from ophthalmologic...
Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the also be influenced by X-inactivation pattern. this study, we present detailed clinical descriptions of six patients with rare base-pair substitution affecting Arg309 at C-terminal end transcriptional repression domain (TRD). All intellectual disability and some RTT features, but they do not fulfill criteria for or atypical RTT. Most mild facial...
The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac skeletal defects. We have identified de novo interstitial distal in 9 month-old girl with ventricular septum defect the subaortic region, patent foramen ovale ductus arteriosus, vascular malformation lung, dysgenesis corpus callosum dysmorphism using array-comparative genomic hybridization....
Background: In clinical practice, the possible diagnosis of tuberous sclerosis or polycystic kidney disease is primarily based on criteria, which can later be verified by genetic testing. But in case TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1-CGS), renal appearance more serious. Therefore, early analysis recommended. Methods: Herein we present report four children with TSC2/PKD1-CGS, one involving NTHL1 gene. We aim to emphasize importance testing this rare syndrome. Results: During...