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

  title={Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.},
  author={Svjetlana Lovric and Sara Gonçalves and Heon Yung Gee and Babak Oskouian and Honnappa Srinivas and Won-Il Choi and Shirlee Shril and Shazia Ashraf and Weizhen Tan and Jia Rao and Merlin Airik and David Schapiro and Daniela A. Braun and Carolin Eva Sadowski and Eugen Widmeier and Tilman Jobst-Schwan and Johanna Magdalena Schmidt and Vladimir Girik and Guido Capitani and Jung Hee Suh and No{\"e}lle Lachauss{\'e}e and Christelle Arrondel and Julie Patat and Olivier Gribouval and M{\'o}nica Furlano and Olivia Boyer and Alain Schmitt and Vincent Vuiblet and Seema Hashmi and Rainer Wilcken and Francois P. Bernier and A Micheil Innes and Jillian S. Parboosingh and Ryan E Lamont and Julian P. Midgley and N. Wright and Jacek Majewski and Martin Zenker and Franz Schaefer and Navina Kuss and Johann Greil and Thomas Giese and Klaus Schwarz and Vilain Catheline and Denny Schanze and Ingolf Franke and Yves Sznajer and Anne S Truant and Brigitte Adams and Julie D{\'e}sir and Ronald Biemann and York Pei and Elisabet Ars and N{\'u}ria Lloberas and {\'A}lvaro Madrid and Vikas R Dharnidharka and Anne M. Connolly and Marcia C. Willing and Megan A Cooper and Richard P. Lifton and Matias Simons and Howard Riezman and Corinne Antignac and Julie D Saba and Friedhelm Hildebrandt},
  journal={The Journal of clinical investigation},
  volume={127 3},
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 and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and… CONTINUE READING
Highly Cited
This paper has 917 citations. REVIEW CITATIONS
Recent Discussions
This paper has been referenced on Twitter 20 times over the past 90 days. VIEW TWEETS