Ontology highlight
ABSTRACT:
SUBMITTER: Lemaire M
PROVIDER: S-EPMC3719402 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Lemaire Mathieu M Frémeaux-Bacchi Véronique V Schaefer Franz F Choi Murim M Tang Wai Ho WH Le Quintrec Moglie M Fakhouri Fadi F Fakhouri Fadi F Taque Sophie S Nobili François F Martinez Frank F Ji Weizhen W Overton John D JD Mane Shrikant M SM Nürnberg Gudrun G Altmüller Janine J Thiele Holger H Morin Denis D Deschenes Georges G Baudouin Véronique V Llanas Brigitte B Collard Laure L Majid Mohammed A MA Simkova Eva E Nürnberg Peter P Rioux-Leclerc Nathalie N Moeckel Gilbert W GW Gubler Marie Claire MC Hwa John J Loirat Chantal C Lifton Richard P RP
Nature genetics 20130331 5
Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS) features episodes of small-vessel thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia and renal failure. Atypical HUS (aHUS) can result from genetic or autoimmune factors that lead to pathologic complement cascade activation. Using exome sequencing, we identified recessive mutations in DGKE (encoding diacylglycerol kinase ɛ) that co-segregated with aHUS in nine unrelated kindreds, definin ...[more]