Šárka Bendová
A5075724421- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neurofibromatosis and Schwannoma Cases
- Genomic variations and chromosomal abnormalities
- Migration, Aging, and Tourism Studies
- Health, Environment, Cognitive Aging
- Congenital heart defects research
- Cancer-related Molecular Pathways
- Hedgehog Signaling Pathway Studies
- Hippo pathway signaling and YAP/TAZ
- Chromatin Remodeling and Cancer
- Vascular Malformations Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Polish socio-economic development
- Aortic aneurysm repair treatments
- Cancer-related gene regulation
- Myasthenia Gravis and Thymoma
- Epigenetics and DNA Methylation
- Soft tissue tumors and treatment
- Nuclear Structure and Function
- Insurance, Mortality, Demography, Risk Management
- Microtubule and mitosis dynamics
- Cerebrospinal fluid and hydrocephalus
- Social and Behavioral Studies
- Hungarian Social, Economic and Educational Studies
University Hospital in Motol
2005-2024
Charles University
2005-2024
Most genes associated with neurodevelopmental disorders (NDDs) were identified an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 16,294 NDD cases and additional 62 6,211 cases. By combining these published data, assess a total 125 over 16,000 compare to nonpsychiatric controls from ExAC. We identify 48 (25 newly reported) showing significant ultra-rare (MAF < 0.01%) gene-disruptive (FDR 5%), six which...
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 PRPF19, encoding spliceosome subunits neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo missense (including seven recurrent 30 individuals) six PRPF19 variants. Eight dysregulated model substrate....
Abstract Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants the two genes that encode histone H3.3 ( H3-3A / H3F3A and H3-3B H3F3B ) [1–4]. This characterized developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative de novo heterozygous either or Here, we analyze data of 58 previously published...
Von Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,000-1/5,000 in various population-based studies). About 30-50% of cases are sporadic, resulting from new mutation. NF1 fully penetrant by mid-childhood, stigmata, and medical problems (neurological, dermatological, endocrine, ophthalmological, oncological) highly variable. Advanced paternal age (APA) has been known to increase the risk germline mutations that contribute presence...
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and (44 caregivers. These include several symptoms in common, fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both identified early childhood were not previously described: feeding difficulties, mean walking age, age at first words. Each the datasets provides complementary knowledge. confirmed those literature more details on...
We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, mosaicism of ring chromosome 17 monosomy. The extent genetic material deleted from the was determined using combination classical cytogenetics, fluorescence in situ hybridization (FISH) multiplex ligation-dependent probe amplification (MLPA) to be 0.6-2.5 Mb on 17p, up about 10 17q. Based our observations review literature we argue that addition universal "ring syndrome"...
An amendment to this paper has been published and can be accessed via a link at the top of paper.
Abstract Background Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused variants in SLC5A7 . In contrast to most other CMSs, CMS20 also associated with neurodevelopmental disorders (NDDs). Only 19 patients from 14 families have been reported so far. Methods We studied 12‐year‐old boy symptoms manifested at six weeks of age. Later, he showed speech delay,...
Abstract Background Intellectual disability (ID) is a feature of many rare diseases caused by thousands genes. This genetic heterogeneity implies that pathogenic variants in specific gene are found only small number patients, and difficulties arise the definition prevailing genotype characteristic phenotype associated with gene. One such very disorders autosomal recessive ID type 66 (OMIM #618221) defects C12orf4 . Up to now, six families have been reported mostly truncating variants. The...
The research article deals with a description of attitudes towards the issue sexuality persons mental disabilities. As part this issue, we often encounter fact that there is still widespread myth in society people disabilities do not need or cannot establish partnerships. However, opposite true. Aim research: main aim was to find out individual from point view social work. Research sample and setting: consisted six professionals (staff working disabilities) lay (parents someone who has no...
Abstract We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and (44 caregivers. These include several symptoms in common, fairly similar distribution, which suggests that caregivers’ data are close to physicians’ data. For example, both identified early childhood were not previously described: feeding difficulties, mean walking age at first words. Each the datasets provide complementary knowledge. confirmed those literature more details on...