A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample. RT‐PCR and cDNA Sanger sequencing were performed on RNA extracted from patient's fibroblasts, as well as western blot. Results A novel missense variant in SPG7 (c.2195T> C; p.Leu732Pro) was first found by whole‐exome sequencing (WES),...