Loss of Function Mutations in GEMIN5 Cause a Neurodevelopmental Disorder

By
Justin.choi
-
0
5
Investigators have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene.
[Nature Communications]
Kour, S., Rajan, D. S., Fortuna, T. R., Anderson, E. N., Ward, C., Lee, Y., Lee, S., Shin, Y. B., Chae, J.-H., Choi, M., Siquier, K., Cantagrel, V., Amiel, J., Stolerman, E. S., Barnett, S. S., Cousin, M. A., Castro, D., McDonald, K., Kirmse, B., … Pandey, U. B. (2021). Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications, 12(1), 2558. https://doi.org/10.1038/s41467-021-22627-w Cite
Full Article