Mutations in Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related disease mechanisms. However, for most cases the underlying defect remains elusive. We identified a kindred with an autosomal-dominant form of CAKUT with predominant ureteropelvic junction obstruction. By whole exome sequencing, we identified a heterozygous truncating mutation (c.1010delG) of T-Box transcription factor 18 (TBX18) in seven affected members of the large kindred.

Source: The American Journal of Human Genetics - July 30, 2015 Category: Genetics & Stem Cells Authors: Asaf Vivante, Marc-Jens Kleppa, Julian Schulz, Stefan Kohl, Amita Sharma, Jing Chen, Shirlee Shril, Daw-Yang Hwang, Anna-Carina Weiss, Michael M. Kaminski, Rachel Shukrun, Markus J. Kemper, Anja Lehnhardt, Rolf Beetz, Simone Sanna-Cherchi, Miguel Verbit Tags: Article Source Type: research