Article
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
The Journal of clinical investigation - 1 Mar 2017
Lovric Svjetlana, Goncalves Sara, Gee Heon Yung, Oskouian Babak, Srinivas Honnappa, Choi Won-Il, Shril Shirlee, Ashraf Shazia, Tan Weizhen, Rao Jia, Airik Merlin, Schapiro David, Braun Daniela A, Sadowski Carolin E, Widmeier Eugen, Jobst-Schwan Tilman, Schmidt Johanna Magdalena, Girik Vladimir, Capitani Guido, Suh Jung H, Lachaussée Noëlle, Arrondel Christelle, Patat Julie, Gribouval Olivier, Furlano Monica, Boyer Olivia, Schmitt Alain, Vuiblet Vincent, Hashmi Seema, Wilcken Rainer, Bernier Francois P, Innes A Micheil, Parboosingh Jillian S, Lamont Ryan E, Midgley Julian P, Wright Nicola, Majewski Jacek, Zenker Martin, Schaefer Franz, Kuss Navina, Greil Johann, Giese Thomas, Schwarz Klaus, Catheline Vilain, Schanze Denny, Franke Ingolf, Sznajer Yves, Truant Anne S, Adams Brigitte, Désir Julie, Biemann Ronald, Pei York, Ars Elisabet, Lloberas Nuria, Madrid Alvaro, Dharnidharka Vikas R, Connolly Anne M, Willing Marcia C, Cooper Megan A, Lifton Richard P, Simons Matias, Riezman Howard, Antignac Corinne, Saba Julie D, Hildebrandt Friedhelm
Abstract excerpt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS...
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