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Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder


Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder
A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children s Hospital and assistant professor at Baylor College of Medicine, and Dr. Vandana Shashi at Duke University Medical Center.
Using a combination of comprehensive clinical tests, trio genome sequencing and functional studies in the fruit flies, and global gene matchmaking efforts, the teams found loss-of-function variants in RNF2 gene disrupt normal neuronal development and function that likely resulted in a wide gamut of symptoms from severe intellectual disabilities, hypotonia, impaired motor skills, epilepsy, growth retardation, seizures and feeding difficulties i ....

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