Link between mutation and congenital urinary tract defects

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 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 individuals with urinary tract defects from centers throughout Europe and found seven other patients with DSTYK mutations. "These findings indicate that DSTYK mutations account for 2.2 percent of urinary tract defects in humans, which is very significant as a single-gene cause of this disease," says Dr. Simone Sanna-Cherchi, the first author of the study...

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