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

18 Dec 2019

Abstract excerpt

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...

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PMID: 31854126
DOI: 10.1002/acn3.50967

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