TY - JOUR
T1 - Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
AU - Vivante, Asaf
AU - Kohl, Stefan
AU - Hwang, Daw Yang
AU - Dworschak, Gabriel C.
AU - Hildebrandt, Friedhelm
N1 - Funding Information:
F.H. is an Investigator of the Howard Hughes Medical Institute, a Doris Duke Distinguished Clinical Scientist, and the Warren E. Grupe Professor of Pediatrics. This research was supported by grants from the National Institutes of Health (to F.H.; R01-DK088767) and by the March of Dimes Foundation (6FY11-241). A.V. is a recipient of the Fulbright Post-doctoral Scholar Award for 2013. A.V. is also supported by grants from the Talpiot Medical Leadership Program, Chaim Sheba Medical Center, Tel-Hashomer, Israel and the Manton center Fellowship program, Boston Children’s Hospital, Boston, MA.
PY - 2014/4
Y1 - 2014/4
N2 - Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of structural malformations that result from defects in the morphogenesis of the kidney and/or urinary tract. These anomalies account for about 40-50 % of children with chronic kidney disease worldwide. Knowledge from genetically modified mouse models suggests that single gene mutations in renal developmental genes may lead to CAKUT in humans. However, until recently, only a handful of CAKUT-causing genes were reported, most of them in familial syndromic cases. Recent findings suggest that CAKUT may arise from mutations in a multitude of different single gene causes. We focus here on single-gene causes of CAKUT and their developmental origin. Currently, more than 20 monogenic CAKUT-causing genes have been identified. High-throughput sequencing techniques make it likely that additional CAKUT-causing genes will be identified in the near future.
AB - Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of structural malformations that result from defects in the morphogenesis of the kidney and/or urinary tract. These anomalies account for about 40-50 % of children with chronic kidney disease worldwide. Knowledge from genetically modified mouse models suggests that single gene mutations in renal developmental genes may lead to CAKUT in humans. However, until recently, only a handful of CAKUT-causing genes were reported, most of them in familial syndromic cases. Recent findings suggest that CAKUT may arise from mutations in a multitude of different single gene causes. We focus here on single-gene causes of CAKUT and their developmental origin. Currently, more than 20 monogenic CAKUT-causing genes have been identified. High-throughput sequencing techniques make it likely that additional CAKUT-causing genes will be identified in the near future.
KW - CAKUT
KW - Congenital Anomalies of the Kidney and Urinary Tract
KW - Genetic kidney disease
KW - Monogenic disease
UR - http://www.scopus.com/inward/record.url?scp=84896696202&partnerID=8YFLogxK
U2 - 10.1007/s00467-013-2684-4
DO - 10.1007/s00467-013-2684-4
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 24398540
AN - SCOPUS:84896696202
SN - 0931-041X
VL - 29
SP - 695
EP - 704
JO - Pediatric Nephrology
JF - Pediatric Nephrology
IS - 4
ER -
