Ontology highlight
ABSTRACT:
SUBMITTER: Sanna-Cherchi S
PROVIDER: S-EPMC5673636 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Sanna-Cherchi Simone S Khan Kamal K Westland Rik R Krithivasan Priya P Fievet Lorraine L Rasouly Hila Milo HM Ionita-Laza Iuliana I Capone Valentina P VP Fasel David A DA Kiryluk Krzysztof K Kamalakaran Sitharthan S Bodria Monica M Otto Edgar A EA Sampson Matthew G MG Gillies Christopher E CE Vega-Warner Virginia V Vukojevic Katarina K Pediaditakis Igor I Makar Gabriel S GS Mitrotti Adele A Verbitsky Miguel M Martino Jeremiah J Liu Qingxue Q Na Young-Ji YJ Goj Vinicio V Ardissino Gianluigi G Gigante Maddalena M Gesualdo Loreto L Janezcko Magdalena M Zaniew Marcin M Mendelsohn Cathy Lee CL Shril Shirlee S Hildebrandt Friedhelm F van Wijk Joanna A E JAE Arapovic Adela A Saraga Marijan M Allegri Landino L Izzi Claudia C Scolari Francesco F Tasic Velibor V Ghiggeri Gian Marco GM Latos-Bielenska Anna A Materna-Kiryluk Anna A Mane Shrikant S Goldstein David B DB Lifton Richard P RP Katsanis Nicholas N Davis Erica E EE Gharavi Ali G AG
American journal of human genetics 20171101 5
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 (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation ...[more]