National Repository of Grey Literature 15 records found  1 - 10next  jump to record: Search took 0.01 seconds. 
Molecular syndromology: molecular genetic causes of rare diseases illustrated with Kabuki and Kabuki-like syndromes
Paděrová, Jana ; Macek, Milan (advisor) ; Baxová, Alice (referee) ; Fajkusová, Lenka (referee)
Kabuki syndrome (KS) is a dominantly inherited rare disease caused mainly by de novo pathogenic variants (henceforward mutations) in the KMT2D (formerly MLL2) and KDM6A genes. It is rare multisystemic syndrome characterized by intellectual disability (ID) and typical facial dysmorphism. KS is clinically heterogeneous, which complicates its clinical diagnosis. The first aim of this thesis was to introduce mutation testing of the two known KS causative genes in KS by Sanger DNA sequencing and by MLPA (Multiple Ligation Probe Amplification) at the Department of Biology and Medical Genetics of 2nd Medical Faculty of Charles University and University Hospital Motol, Prague followed by identification of underlying genetic mutations in KMT2D/KDM6A genes in 43 patients with phenotype typical for KS, who were indicated for this molecular genetic analysis by several collaborating genetic departments in the Czech Republic. We aimed to confirm or disprove of patient's clinical diagnosis, establish spectra of KMT2D/KDM6A mutations in the Czech population, render phenotype-genotype correlations and evaluate the phenotypic "MLL2-score" (published by Makrithanasis et al., 2013) utility as prediction tool for selection of cases for KMT2D sequencing. Mutations in the KMT2D gene were detected by Sanger DNA sequencing...
Linkage analyses and characterization of candidate gene locuses and genes in families with multiple appearance of hereditary neuropathy Charcot-Marie-Tooth or deafness with unexplained gene defect
Šafka Brožková, Dana ; Seeman, Pavel (advisor) ; Kemlink, David (referee) ; Fajkusová, Lenka (referee)
Topics of the Ph.D. studies were: 1) hereditary neuropathy and 2) non-syndromic hearing loss Ad 1) The larger part of the dissertation thesis is devoted to hereditary neuropathies Charcot-Marie-Tooth (CMT). Four families with hereditary neuropathy were examined by the linkage analysis on SNP chips. The other part describe the analysis of new mutations in the GJB1, MPZ and PMP22 genes. Ad 2) The author performed the homozygosity mapping in a Czech Roma families with non-syndromic hearing loss.
Analysis of the LMNA gene and the SH3TC2 gene among Czech patients with hereditary neuropathy Charcot-Marie-Tooth type 1 and 2
Laššuthová, Petra ; Seeman, Pavel (advisor) ; Martásek, Pavel (referee) ; Fajkusová, Lenka (referee)
My PhD thesis can be devided into two parts: 1. Hereditary motor-sensory neuropathies (HMSN) 2. Selected muscle disorders The main emphasis was on the first part - hereditary motor and sensory neuropathies. Research was focused on autosomal recessive forms - demyelinating type CMT4C and axonal type CMT2B1. Most of the results obtained are related to these disorders. Data, which were obtained, are unique and were published in international journals with impact factor. Results obtained from CMT4C study are accepted for publication in Clinical Genetics. Results obtained in LMNA study (CMT2B1) were published in Journal of Human Genetics. The author performed and validated these new methods and original results, which are due to be used in genetic molecular testing of patients with hereditary neuropathies and muscle disorders: 1. Sequencing of all coding exons of the SH3TC2 gene. First mutations in the SH3TC2 gene in Czech HMSN I patients were found. 2. The prevalent mutation among Czech CMT4C patients was proven to be p.Arg954Stop. 3. Real-time PCR assay targeted at detection of the prevalent mutation p.Arg954Stop in the SH3TC2 gene was validated and is now used in our lab on a daily basis as a quick and efficient screening. 4. Molecular genetic testing of the SH3TC2 gene was introduced into the routine...
Molecular genetic analysis of the fragile X syndrome and myotonic dystrophy
Mušová, Zuzana ; Sedláček, Zdeněk (advisor) ; Fajkusová, Lenka (referee) ; Maxová, Alica (referee)
More than 20 human hereditary diseases have been linked to expansions of unstable simple nucleotide repeats. These disorders include several clinically heterogeneous neurological diseases such as the fragile X syndrome (FXS), Friedreich's ataxia (FRDA1), Huntington's disease (HD), multiple types of spinocerebellar ataxias (SCA), and myotonic dystrophy type 1 (DM1). The phenotype of these disorders shows wide variability ranging from mild symptoms with late onset to severe congenital forms. The pathogenic mechanism of these expansions depends mainly on the type, localization and length of the repeat. Expansions of tracts of CAG triplets in coding regions cause polyglutamine disorders with abnormal protein function. Expanded non-coding repeats can silence gene expression or produce toxic RNAs which can be engaged in abnormal interactions with RNA-binding proteins [reviewed in 1]. The fragile X syndrome is one of the most common causes of inherited mental retardation with estimated frequency of 1 in 4000-9000 males and 1 in 7000-15000 females [2]. The disorder is associated with the expansion of a polymorphic CGG repeat in the 5' untranslated region of the FMR1 gene in Xq27.3 [3-6]. Affected males with full mutations (over 200 CGG repeats) have mental impairment with dysmorphic features (elongated face,...

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1 Fajkusová, Lucie
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