A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia
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Updated: Jun 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Jae-Sung Lim1, Jung-Joon Sung, Yoon-Ho Hong
1Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea.
Abstract:
Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.
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