Article
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
The Journal of clinical investigation - 1 May 2011
Heeringa Saskia F, Chernin Gil, Chaki Moumita, Zhou Weibin, Sloan Alexis J, Ji Ziming, Xie Letian X, Salviati Leonardo, Hurd Toby W, Vega-Warner Virginia, Killen Paul D, Raphael Yehoash, Ashraf Shazia, Ovunc Bugsu, Schoeb Dominik S, McLaughlin Heather M, Airik Rannar, Vlangos Christopher N, Gbadegesin Rasheed, Hinkes Bernward, Saisawat Pawaree, Trevisson Eva, Doimo Mara, Casarin Alberto, Pertegato Vanessa, Giorgi Gianpietro, Prokisch Holger, Rötig Agnès, Nürnberg Gudrun, Becker Christian, Wang Su, Ozaltin Fatih, Topaloglu Rezan, Bakkaloglu Aysin, Bakkaloglu Sevcan A, Müller Dominik, Beissert Antje, Mir Sevgi, Berdeli Afig, Varpizen Seza, Zenker Martin, Matejas Verena, Santos-Ocaña Carlos, Navas Placido, Kusakabe Takehiro, Kispert Andreas, Akman Sema, Soliman Neveen A, Krick Stefanie, Mundel Peter, Reiser Jochen, Nürnberg Peter, Clarke Catherine F, Wiggins Roger C, Faul Christian, Hildebrandt Friedhelm
Abstract excerpt
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals...
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