Article
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
American journal of human genetics - 2 Nov 2017
Sanna-Cherchi Simone, Khan Kamal, Westland Rik, Krithivasan Priya, Fievet Lorraine, Rasouly Hila Milo, Ionita-Laza Iuliana, Capone Valentina P, Fasel David A, Kiryluk Krzysztof, Kamalakaran Sitharthan, Bodria Monica, Otto Edgar A, Sampson Matthew G, Gillies Christopher E, Vega-Warner Virginia, Vukojevic Katarina, Pediaditakis Igor, Makar Gabriel S, Mitrotti Adele, Verbitsky Miguel, Martino Jeremiah, Liu Qingxue, Na Young-Ji, Goj Vinicio, Ardissino Gianluigi, Gigante Maddalena, Gesualdo Loreto, Janezcko Magdalena, Zaniew Marcin, Mendelsohn Cathy Lee, Shril Shirlee, Hildebrandt Friedhelm, van Wijk Joanna A E, Arapovic Adela, Saraga Marijan, Allegri Landino, Izzi Claudia, Scolari Francesco, Tasic Velibor, Ghiggeri Gian Marco, Latos-Bielenska Anna, Materna-Kiryluk Anna, Mane Shrikant, Goldstein David B, Lifton Richard P, Katsanis Nicholas, Davis Erica E, Gharavi Ali G
Abstract excerpt
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function...
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