COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

SF, Heeringa; G, Chernin; M, Chaki; W, Zhou; AJ, Sloan; Z, Ji; LX, Xie; L, Salviati; TW, Hurd; V, Vega-Warner; PD, Killen; Y, Raphael; S, Ashraf; B, Ovunc; DS, Schoeb; HM, McLaughlin; R, Airik; CN, Vlangos; R, Gbadegesin; B, Hinkes; P, Saisawat; E, Trevisson; M, Doimo; A, Casarin; V, Pertegato; G, Giorgi; H, Prokisch; A, Rötig; G, Nürnberg; C, Becker; S, Wang; F, Ozaltin; R, Topaloglu; A, Bakkaloglu; SA, Bakkaloglu; D, Müller; A, Beissert; S, Mir; A, Berdeli; S, Varpizen; M, Zenker; V, Matejas; C, Santos-Ocaña; P, Navas; T, Kusakabe; A, Kispert; S, Akman; NA, Soliman; S, Krick; P, Mundel; J, Reiser; P, Nürnberg; CF, Clarke; RC, Wiggins; C, Faul; F, Hildebrandt

doi:10.1172/jci45693

Public

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Shared by NobleBlocks on Apr 11, 2011 • 12:00 AM UTC

Authors:

Heeringa SF

Chernin G

Chaki M

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. ...

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