Copy-number disorders are a common cause of congenital kidney malformations.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F12%3A33140437" target="_blank" >RIV/61989592:15110/12:33140437 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1016/j.ajhg.2012.10.007" target="_blank" >http://dx.doi.org/10.1016/j.ajhg.2012.10.007</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ajhg.2012.10.007" target="_blank" >10.1016/j.ajhg.2012.10.007</a>
Alternative languages
Result language
angličtina
Original language name
Copy-number disorders are a common cause of congenital kidney malformations.
Original language description
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 x 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD casesharbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 x 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single
Czech name
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Czech description
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Classification
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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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The American Society of Human Genetics
ISSN
0002-9297
e-ISSN
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Volume of the periodical
91
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
987-997
UT code for WoS article
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EID of the result in the Scopus database
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