Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10314966" target="_blank" >RIV/00216208:11110/15:10314966 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/15:10314966 RIV/00064203:_____/15:10314966 RIV/00064165:_____/15:10314966

Výsledek na webu

<a href="http://dx.doi.org/10.1186/s12881-015-0261-3" target="_blank" >http://dx.doi.org/10.1186/s12881-015-0261-3</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s12881-015-0261-3" target="_blank" >10.1186/s12881-015-0261-3</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

Popis výsledku v původním jazyce

Background: Autosomal recessive polycystic kidney disease (ARPKD) is an early-onset form of polycystic kidney disease that often leads to devastating outcomes for patients. ARPKD is caused by mutations in the PKHD1 gene, an extensive gene that encodes for the ciliary protein fibrocystin/polyductin. Next-generation sequencing is presently the best option for molecular diagnosis of ARPKD. Our aim was to set up the first study of ARPKD patients from the Czech Republic, to determine the composition of theirmutations and genotype-phenotype correlations, along with establishment of next-generation sequencing of the PKHD1 gene that could be used for the diagnosis of ARPKD patients. Methods: Mutational analysis of the PKHD1 gene was performed in 24 families using the amplicon-based next-generation sequencing (NGS) technique. In patients without 2 causal mutations identified by NGS, subsequent MLPA analysis of the PKHD1 gene was carried out. Results: Two underlying mutations were detected in 5

Název v anglickém jazyce

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

Popis výsledku anglicky

Background: Autosomal recessive polycystic kidney disease (ARPKD) is an early-onset form of polycystic kidney disease that often leads to devastating outcomes for patients. ARPKD is caused by mutations in the PKHD1 gene, an extensive gene that encodes for the ciliary protein fibrocystin/polyductin. Next-generation sequencing is presently the best option for molecular diagnosis of ARPKD. Our aim was to set up the first study of ARPKD patients from the Czech Republic, to determine the composition of theirmutations and genotype-phenotype correlations, along with establishment of next-generation sequencing of the PKHD1 gene that could be used for the diagnosis of ARPKD patients. Methods: Mutational analysis of the PKHD1 gene was performed in 24 families using the amplicon-based next-generation sequencing (NGS) technique. In patients without 2 causal mutations identified by NGS, subsequent MLPA analysis of the PKHD1 gene was carried out. Results: Two underlying mutations were detected in 5

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

—

Projekt

<a href="/cs/project/NT13090" target="_blank" >NT13090: Sekvenční varianty genu PKHD1 u pacientů s autozomálně recesivní polycystickou chorobou ledvin s využitím technologie sekvenování nové generace</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

—

Svazek periodika

16

Číslo periodika v rámci svazku

December

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

12

Strana od-do

—

Kód UT WoS článku

000367033900001

EID výsledku v databázi Scopus

2-s2.0-84951757430