Public Release: 

Discovery of CLPB gene associated with a new pediatric mitochondrial syndrome

Children's Mercy Hospital

Kansas City, Mo. -- January 15, 2015 -- A new study published in the American Journal of Human Genetics demonstrates the continued important contributions from the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City, Mo. The study describes a new pediatric mitochondrial syndrome and discovery of the responsible gene, called CLPB. Dr. Carol Saunders and her team partnered with collaborators in Denmark to report their collective findings based on gene mapping and exome sequencing in five children with CLPB-related disease. These patients had strikingly similar clinical findings including cataracts, severe psychomotor regression during febrile episodes, epilepsy, neutropenia with frequent infections, urinary excretion of 3-methylglutaconic aciduria, and death in early childhood.

"This research once again highlights the power of genomic medicine in the diagnosis and discovery of rare pediatric conditions," said Saunders, clinical laboratory director of the Center for Pediatric Genomic Medicine "In this case, we have identified one of the many genes, CLPB, involved in mitochondrial diseases. These findings emphasize the importance of basic research into the characterization of human CPLB gene function and will pave the way for the diagnosis of other patients."

The Center for Pediatric Genomic Medicine at Children's Mercy was the first genome center in the world inside a children's hospital, and the center's STAT-Seq test for critically ill newborns was one of TIME magazine's Top 10 Medical Breakthroughs of 2012. Learn more at

About Children's Mercy Kansas City

Children's Mercy, located in Kansas City, Mo., is one of the nation's top pediatric medical centers. The 354-bed, not-for-profit hospital provides care for children from birth through the age of 21, and has been ranked by U.S. News & World Report as one of "America's Best Children's Hospitals." For the third time in a row, Children's Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of 600 pediatricians and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists.



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