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A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene.

ABSTRACT: Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a "likely pathogenic" variant.⁵ Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

SUBMITTER: Morikawa T

PROVIDER: S-EPMC8149642 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene.

Morikawa Takuya T Miura Shiroh S Tateishi Takahisa T Noda Kazuhito K Shibata Hiroki H

Human genome variation 20210525 1

Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a "likely pathogenic" variant.5 ...[more]

PMID: 34035234

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