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

Result code in 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>
Alternative codes found
RIV/00216208:11130/15:10314966 RIV/00064203:_____/15:10314966 RIV/00064165:_____/15:10314966
Result on the web
<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>

Result language
angličtina
Original language name
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
Original language description
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
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/NT13090" target="_blank" >NT13090: Sequence variants of the PKHD1 gene in patients with autosomal recessive polycystic kidney disease by next generation sequencing technology</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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