作者
Simone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, Monica Bodria, Matthew G Sampson, Dexter Hadley, Shannon N Nees, Miguel Verbitsky, Brittany J Perry, Roel Sterken, Vladimir J Lozanovski, Anna Materna-Kiryluk, Cristina Barlassina, Akshata Kini, Valentina Corbani, Alba Carrea, Danio Somenzi, Corrado Murtas, Nadica Ristoska-Bojkovska, Claudia Izzi, Beatrice Bianco, Marcin Zaniew, Hana Flogelova, Patricia L Weng, Nilgun Kacak, Stefania Giberti, Maddalena Gigante, Adela Arapovic, Kristina Drnasin, Gianluca Caridi, Simona Curioni, Franca Allegri, Anita Ammenti, Stefania Ferretti, Vinicio Goj, Luca Bernardo, Vaidehi Jobanputra, Wendy K Chung, Richard P Lifton, Stephan Sanders, Lorraine N Clark, Marijan Saraga, Sandosh Padmanabhan, Anna F Dominiczak, Tatiana Foroud, Loreto Gesualdo, Zoran Gucev, Landino Allegri, Anna Latos-Bielenska, Daniele Cusi, Francesco Scolari, Velibor Tasic, Hakon Hakonarson, Gian Marco Ghiggeri, Ali G Gharavi
发表日期
2012/12/7
期刊
The American Journal of Human Genetics
卷号
91
期号
6
页码范围
987-997
出版商
Elsevier
简介
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 …
学术搜索中的文章
S Sanna-Cherchi, K Kiryluk, KE Burgess, M Bodria… - The American Journal of Human Genetics, 2012