Open AccessMutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans
Author(s) -
Verena Klämbt,
Max Werth,
Ana C. Onuchic-Whitford,
Maike Getwan,
Thomas M. Kitzler,
Florian Buerger,
Youying Mao,
Konstantin Deutsch,
Nina Mann,
Amar J. Majmundar,
Michael M. Kaminski,
Tian Shen,
Kai M. SchmidtOtt,
Mohamed Shalaby,
Sherif El Desoky,
Jameela A. Kari,
Shirlee Shril,
Soeren S. Lienkamp,
Jonathan Barasch,
Friedhelm Hildebrandt
Publication year - 2020
Publication title -
nephrology, dialysis, transplantation/nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfaa215
Subject(s) - medicine , tubulopathy , transcription factor , kidney disease , endocrinology , cancer research , genetics , gene , biology
An underlying monogenic cause of early-onset chronic kidney disease (CKD) can be detected in ∼20% of individuals. For many etiologies of CKD manifesting before 25 years of age, >200 monogenic causative genes have been identified to date, leading to the elucidation of mechanisms of renal pathogenesis.