The Undiagnosed Diseases Program at the University of Alabama at Birmingham (UAB) recently found a previously unknown genetic variant that is believed to account for a severe movement disorder in a young woman. In a case study published in the Sept. 9, 2019 issue of Neurology®, the journal of the American Academy of Neurology, the research team reports on the discovery of the variant, and describes the steps taken to unlock this medical mystery.
HudsonAlpha scientists conducted whole genome sequencing and analysis, which revealed a never-before described mutation in the ADCY5 gene. Other variants of that gene has been associated with childhood movement disorders. Testing of the parents indicated that the variant was not present in either, indicating it was a spontaneous mutation in the woman.
Read the full story at UAB News.