Mutated gene is likely cause of 3-year-old girl's severe disorder

A young girl with severe neurological symptoms finally has a diagnosis, following the discovery of a genetic mutation that likely caused the girl to experience a cascade of symptoms. Like a train hitting a missing section of rail, a mutated copy of the gene FBXO28 is suspected of causing one of the girl's chromosomes to go off track -- a frameshift mutation -- leading to a host of neurological and developmental defects.