Exome Sequencing in Neurology

In the recent June issue of Neurology journal two reviews draw our attention on the big steps made by exome sequencing in both clinical and translational research. Developments of NGS are running at a very high speed, and, if until some months ago the application of these techniques in clinic was still considered "potential", we have now the first evidences that "potential" is an adjective of the past. The review of Coppola and Geschwind discusses three milestone papers describing the diagnosis of neurological diseases using exome sequencing. One paper by Landourè et al. describes a novel mutation in the TRPV4 gene causing Charcot-Marie-Tooth 2C phenotype. In the manuscript of Sailer et al. exome sequencing was succesfully performed to identify a novel mutation in the PRKCG gene causing Spinocerebellar Ataxia 14 (SCA14). In the third study Pierson et al. identified 2 compound heterozygous mutations in GLB1, responsible for recessive juvenile-onset GM1 in a family where initial galactosidase enzyme analysis was reported as normal.

In the same issue of Neurology, a second review by Doherty and Bamshad cites a paper in which a variant of the TYK2 gene was discovered by exome sequencing in 4 individuals with Multiple Sclerosis.