Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more  than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends on sharing sequence data on a global level. In this way—by combining data from seven countries on four continents—we were able to define mutations in ATP1A1, which encode s the alpha1 subunit of the Na+,K+-ATPase, as a cause of autosomal-dominant CMT2.

Source: The American Journal of Human Genetics - March 1, 2018 Category: Genetics & Stem Cells Authors: Petra Lassuthova, Adriana P. Rebelo, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Fiore Manganelli, Shawna M. Feely, Chelsea Bacon, Dana Šafka Brožková, Jana Haberlova, Radim Mazanec, Feifei Tao, Cima Saghira, Lisa Abreu, Steve Courel, Eric Tags: Report Source Type: research