Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Lovric, Svjetlana; Gonçalves, Sara; Yung Gee, Heon; Oskouian, Babak; Srinivas, Honnappa; Choi, Won‐Il; Shril, Shirlee; Ashraf, Shazia; Tan, Weizhen; Rao, Jia; Airik, Merlin; Schapiro, David; A. Braun, Daniela; E. Sadowski, Carolin; Widmeier, Eugen; Jobst‐Schwan, Tilman; Magdalena Schmidt, Johanna; Girik, Vladimir; Capitani, Guido; H. Suh, Jung; Lachaussée, Noëlle; Arrondel, Christelle; Patat, Julie; Gribouval, Olivier; Furlano, Mónica; Boyer, Olivia; Schmitt, Alain; Vuiblet, Vincent; Hashmi, Seema; Wilcken, Rainer; P. Bernier, François; Micheil Innes, A.; S. Parboosingh, Jillian; E. Lamont, Ryan; Midgley, Julian; Wright, Nicola; Majewski, Jacek; Zenker, Martin; Schaefer, Franz; Kuß, Navina; Greil, Johann; Giese, Thomas; Schwarz, Klaus; Catheline, Vilain; Schanze, Denny; Franke, Ingolf; Sznajer, Yves; S. Truant, Anne; Adams, Brigitte; Désir, Julie; Biemann, Ronald; Pei, York; Ars, Elisabet; Lloberas, Núria; Madrid, A.; R. Dharnidharka, Vikas; M. Connolly, Anne; Willing, Marcia; A. Cooper, Megan; P. Lifton, Richard; Simons, Matias; Riezman, Howard; Antignac, Corinne; D. Saba, Julie; Hildebrandt, Friedhelm

doi:10.1172/jci89626

Public

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Published in Journal of Clinical Investigation • Feb 5, 2017

Authors:

Svjetlana Lovric

Sara Gonçalves

Heon Yung Gee

Abstract

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 unk...

Subject

Biology

Ichthyosis

Nephrotic syndrome

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