Molekulárně genetická vyšetření u klinicky definované skupiny pacientů se syndromovou poruchou zraku a sluchu u vzácných genetických syndromů asociovaných s hluchoslepotou v ČR a SR

• Název práce v češtině: Molekulárně genetická vyšetření u klinicky definované skupiny pacientů se syndromovou poruchou zraku a sluchu u vzácných genetických syndromů asociovaných s hluchoslepotou v ČR a SR
• Název v anglickém jazyce: Molecular genetic examinations in clinically defined group of patients with syndromic sight and hearing impairment in rare genetic disorders associated with deafblindness in the CR and SR
• Klíčová slova: COL2A1, hluchoslepota, kolagen, NGS sekvenování nové generace, odchlípení sítnice, retinitis pigmentosa, Sangerovo sekvenování, Sticklerův syndrom, USH2A, Usherův syndrom
• Klíčová slova anglicky: COL2A1, collagen, deafblindness, NGS next generation sequencing, retinal detachment, retinitis pigmentosa, Sanger sequencing, Stickler syndrome, USH2A, Usher syndrome
• Akademický rok vypsání: 2014/2015
• Typ práce: disertační práce
• Jazyk práce: čeština
• Ústav: Ústav biologie a lékařské genetiky (13-716)
• Vedoucí / školitel: MUDr. Radka Kremlíková Pourová, Ph.D.
• Řešitel: skrytý - zadáno a potvrzeno stud. odd.
• Datum přihlášení: 27.03.2015
• Datum zadání: 27.03.2015
• Datum potvrzení stud. oddělením: 27.03.2015
• Datum a čas obhajoby: 01.02.2021 14:30
• Datum odevzdání elektronické podoby: 22.01.2021
• Datum odevzdání tištěné podoby: 26.11.2020
• Datum proběhlé obhajoby: 01.02.2021
• Oponenti: prof. MUDr. Jaromír Astl, CSc.
• Konzultanti: MUDr. Anna Křepelová, CSc.

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Předběžná náplň práce

Hluchoslepota, neboli kombinované postižení, je současné poškození zraku a sluchu různého stupně s incidencí cca 1 : 8000 dětí a 1 : 5500 dospělých. Její nejčastější genetickou příčinou jsou syndromy Sticklerův (STL) a Usherův (USH). Hlavním cílem této práce je poskytnout aktuální přehled o výskytu STL a USH v ČR a SR, upřesnění korelací genotypu s fenotypem pro naši populaci a tím diagnostických kritérií. Pro podezření na STL jsme pomocí sekvenování a MLPA vyšetřili celkem 45 pacientů z 28 rodin. U 39 pacientů z 22 rodin jsme nalezli potenciálně kauzální varianty STL genů. Detekovali jsme celkem 15 různých variant (z toho 8 nových) v genu COL2A1 u 28 pacientů z 18 rodin a 4 různé dosud nepopsané varianty v genu COL11A1 u 11 pacientů ze 4 rodin. Příčinu onemocnění jsme objasnili u 22 rodin (79 % vyšetřovaných). Do výzkumu USH bylo zařazeno 30 pacientů z 27 rodin. Nejčastěji jsme zachytili patogenní varianty v genu USH2A, a to 19 variant u 14 rodin, z toho 10 popsaných a 9 nových. Dále jsme nalezli 6 variant (5 nových) v genu MYO7A (3 rodiny), 3 (2 nové) v genu USH1C (2 rodiny) a 3 (2 nové) v genu CDH23 (2 rodiny). U dvou rodin byla zjištěna složená heterozygozita pro varianty ve dvou různých USH genech. Příčinu hluchoslepoty v této skupině nemocných jsme objasnili u 21 rodin (78 % vyšetřovaných). Na základě výsledků této studie jsme postulovali zpřesněná diagnostická a indikační kritéria pro zvýšení záchytu STL a USH v ČR a SR.

Předběžná náplň práce v anglickém jazyce

Deafblindness is a combined impairment of vision and hearing with an incidence of about 1: 8000 children and 1: 5500 adults. The most common genetic causes are the Stickler (STL) and Usher (USH) syndromes. The main goal of this work is to provide an up-to-date overview of STL and USH in the Czech and Slovak Republic (CR and SR), to determine the correlations between the genotype and phenotype in our population and the associated diagnostic criteria. Using sequencing and MLPA we examined 45 patients from 28 families for suspected STL. We found potentially causal variants of STL genes in 39 patients from 22 families. Fifteen different COL2A1 variants (8 being novel) were found in 28 patients from 18 families and 4 novel COL11A1 variants were found in 11 patients from 4 families. We identified the cause of the disease in 79 % of the families. The USH study involved 30 patients from 27 families. The most frequent cause was USH2A pathogenic variants, i.e. 19 variants in 14 families, 9 being novel. Less common were pathogenic variants in MYO7A (6 variants in 3 families, 5 being novel), USH1C and CDH23 (3 variants, 2 being novel, in 2 families both) genes. In 2 families, compound heterozygosity was found for variants in two different USH genes. The deafblindness etiology was clarified for 24 patients from 78 % families. Based on the results of this study, we postulated more precise diagnostic and indication criteria for increasing STL and USH detection in the CR and SR.