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Copy-number disorders are a common cause of congenital kidney malformations (CROSBI ID 195426)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Sanna-Cherchi, S. ; ... ; Arapović, Adela ; Drnasin, Kristina ; ... ; Saraga, Marijan ; ... ; Tasic, V. ; ... ; Gharavi A.G. Copy-number disorders are a common cause of congenital kidney malformations // American journal of human genetics, 91 (2012), 6; 987-997. doi: 10.1016/j.ajhg.2012.10.007

Podaci o odgovornosti

Sanna-Cherchi, S. ; ... ; Arapović, Adela ; Drnasin, Kristina ; ... ; Saraga, Marijan ; ... ; Tasic, V. ; ... ; Gharavi A.G.

engleski

Copy-number disorders are a common cause of congenital kidney malformations

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 × 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 cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13, 839 population controls (p = 1.2 × 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 individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects ; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.

copy -number disorders; congenital kidney malformations

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o izdanju

91 (6)

2012.

987-997

objavljeno

0002-9297

10.1016/j.ajhg.2012.10.007

Povezanost rada

Kliničke medicinske znanosti

Poveznice
Indeksiranost