Public release date: 17-Jul-2013 [ | E-mail | Share ] Contact: Karin Eskenazi cumcnews@columbia.edu 212-305-3900 Columbia University Medical Center NEW YORK, NY (July 17, 2013) Researchers at Columbia University Medical Center (CUMC) and collaborators have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, a common form of birth defect and the most common cause of kidney failure in children. It is the first time that a specific genetic mutation has been linked to a non-syndromic form of urinary tract malformation. The findings were published in the July 17 online issue of the New England Journal of Medicine. The research team, led by Ali Gharavi, MD, associate professor of medicine in the Division of Nephrology and a nephrologist at NewYork-Presbyterian Hospital/Columbia University Medical Center, studied a Sardinian family with congenital malformations of the kidney and urinary tract. Several family members had experienced kidney failure at a young age. Using the recently developed tool of exome gene sequencing (sequencing of only the coding parts of the genome), the researchers identified a mutation in a gene called dual serine/threonine and tyrosine protein kinase (DSTYK) in all of the affected family members. The researchers then screened 311 unrelated … Continue reading
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