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

Takuya Morikawa, Shiroh Miura, Takahisa Tateishi, Kazuhito Noda, Hiroki Shibata

研究成果: Contribution to journalArticle査読

抄録

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.

本文言語英語
論文番号21
ジャーナルHuman Genome Variation
8
1
DOI
出版ステータス出版済み - 12 2021

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

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