COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

F. Heeringa, Saskia; Chernin, Gil; Chaki, Moumita; Zhou, Weibin; Sloan, Alexis; Ji, Ziming; Xie, Letian; Salviati, Leonardo; W. Hurd, Toby; Vega-Warner, Virginia; D. Killen, Paul; Raphael, Yehoash; Ashraf, Shazia; Övünç, Buğsu; S. Schoeb, Dominik; M. McLaughlin, Heather; Airik, Rannar; N. Vlangos, Christopher; 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; Özaltın, Fatih; Topaloğlu, Rezan; Bakkaloğlu, Ayşı̇n; A. Bakkaloğlu, Sevcan; N. Müller, Dominik; Beissert, Antje; Mır, Sevgı; Berdelı, Afig; πzen, Seza; Zenker, Martin; Matejas, Verena; Santos‐Ocaña, Carlos; Navas, Plácido; Kusakabe, Takehiro; Kispert, Andreas; Akman, Sema; A. Soliman, Neveen; Krick, Stefanie; Mündel, Peter; Reiser, Jochen; Nürnberg, Peter; F. Clarke, Catherine; C. Wiggins, Roger; Faul, Christian; Hildebrandt, Friedhelm

doi:10.1172/jci45693

Public

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Published in Journal of Clinical Investigation • Apr 25, 2011

Authors:

Saskia F. Heeringa

Gil Chernin

Moumita Chaki

Abstract

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. ...

Subject

Sensorineural deafness

Nephrotic syndrome

Medicine

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