Scientists Spot Gene Behind Fatal Infant Kidney Disorder

Researchers say they’ve identified a gene associated with a rare inherited kidney disorder that usually kills infants soon after birth.The disease, called Meckel-Gruber syndrome (MKS), causes central nervous system deformities and abnormal cysts in the kidneys.The finding, published in the current issue of Nature Genetics, is the result of an international effort led by researchers at the Mayo Clinic.Identification of this gene means that families with a history of MKS can now have blood tests to be screened for this defect and seek genetic counseling. The study also advances knowledge about related disorders such as more common forms of polycystic kidney disease (PKD), which accounts for more than 5 percent of end-stage kidney disease in the United States and Europe.

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