Mutation linked to congenital urinary tract defects

Researchers have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, the most common cause of kidney failure in children.

Researchers from Columbia University Medical Center in New York and several other U.S. and Italian collaborators say the research marks the first time that a specific genetic mutation has been linked to a non-syndromic form of urinary tract malformation. The findings were published online in the New England Journal of Medicine (July 17, 2013).

The research team 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, the researchers identified a mutation in a gene called dual serine/threonine and tyrosine protein kinase (DSTYK) in all of the affected family members.

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% of urinary tract defects in humans, which is very significant as a single-gene cause of this disease,” said first author Simone Sanna-Cherchi, MD, of Columbia University.

Dr. Sanna-Cherchi, working with lead author Ali Gharavi, MD, and colleagues, now plan to use the exome genome sequencing approach to study other patients and define additional forms of congenital urinary tract defects.

“By defining new disease categories, we can study each genetic subtype in detail and determine why there is so much variability in the clinical course and complications of these disorders. We will be better able to advise patients on the risk of complications in family members and future offspring,” Dr. Sanna-Cherchi said.

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