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Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.

Abstract：

:Copy number variations associate with different developmental phenotypes and represent a major cause of congenital anomalies of the kidney and urinary tract (CAKUT). Because rare pathogenic copy number variations are often large and contain multiple genes, identification of the underlying genetic drivers has proven to be difficult. Here we studied the role of rare copy number variations in 80 patients from the KIMONO study cohort for which pathogenic mutations in three genes commonly implicated in CAKUT were excluded. In total, 13 known or novel genomic imbalances in 11 of 80 patients were absent or extremely rare in 23,362 population controls. To identify the most likely genetic drivers for the CAKUT phenotype underlying these rare copy number variations, we used a systematic in silico approach based on frequency in a large data set of controls, annotation with publicly available databases for developmental diseases, tolerance and haploinsufficiency scores, and gene expression profile in the developing kidney and urinary tract. Five novel candidate genes for CAKUT were identified that showed specific expression in the human and mouse developing urinary tract. Among these genes, DLG1 and KIF12 are likely novel susceptibility genes for CAKUT in humans. Thus, there is a significant role of genomic imbalance in the determination of kidney developmental phenotypes. Additionally, we defined a systematic strategy to identify genetic drivers underlying rare copy number variations.

journal_name

Kidney Int

journal_title

Kidney international

authors

Westland R,Verbitsky M,Vukojevic K,Perry BJ,Fasel DA,Zwijnenburg PJ,Bökenkamp A,Gille JJ,Saraga-Babic M,Ghiggeri GM,D'Agati VD,Schreuder MF,Gharavi AG,van Wijk JA,Sanna-Cherchi S

doi

10.1038/ki.2015.239

subject

Has Abstract

pub_date

2015-12-01 00:00:00

pages

1402-1410

issue

6

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)61047-X

journal_volume

88

pub_type

杂志文章

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