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Editorial
. 2019 Sep;7(Suppl 6):S226.
doi: 10.21037/atm.2019.08.73.

Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction

Raul Fernandez-Prado  1 , Mehmet Kanbay  2 , Alberto Ortiz  1 , Maria Vanessa Perez-Gomez  1
Affiliations
Editorial

Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction

Raul Fernandez-Prado et al. Ann Transl Med. 2019 Sep.
No abstract available

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Conflict of interest statement

Conflicts of Interest: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Key manifestations of CAKUT. Examples of key CAKUT manifestations. All manifestations shown to affect one kidney may also be bilateral. CAKUT, congenital abnormalities of the kidney and urinary tract.
Figure 2
Figure 2
Structure and function of basonuclin 2 (BNC2). Location of mutations associated with different diseases. Murine BNC2 gene and protein. (A) Gene; (B) protein: the 6 zinc fingers and the serine stripe are represented; (C) potential alternative splice sites that may originate multiple different proteins. Drawn from information found in (21,22). NLS, nuclear location signal.
See this image and copyright information in PMC

Comment in

Comment on

  • Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
    Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Kolvenbach CM, et al. Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023. Am J Hum Genet. 2019. PMID: 31051115 Free PMC article.

References

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    1. Ortiz A, Sanchez-Niño MD, Crespo-Barrio M, et al. The Spanish Society of Nephrology (SENEFRO) commentary to the Spain GBD 2016 report: Keeping chronic kidney disease out of sight of health authorities will only magnify the problem. Nefrologia 2019;39:29-34. 10.1016/j.nefro.2018.09.002 - DOI - PubMed
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    1. Kolvenbach CM, Dworschak GC, Frese S, et al. Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am J Hum Genet 2019;104:994-1006. 10.1016/j.ajhg.2019.03.023 - DOI - PMC - PubMed
    1. Nishimura H, Yerkes E, Hohenfellner K, et al. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol Cell 1999;3:1-10. 10.1016/S1097-2765(00)80169-0 - DOI - PubMed