A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Spastic paraplegia type 4 (SPG4) is caused by mutations of the SPAST gene and is the most common form of autosomal-dominantly inherited pure hereditary spastic paraplegia (HSP). We herein report a Japanese patient with SPG4 with a confirmed de novo mutation of SPAST. On exome sequencing and Sanger s...

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Detalles Bibliográficos
Autores principales: Nan, Haitian, Okamoto, Kensho, Gao, Lihua, Morishima, Yuto, Ichinose, Yuta, Koh, Kishin, Hashiyada, Masaki, Adachi, Noboru, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578612/
https://www.ncbi.nlm.nih.gov/pubmed/32522921
http://dx.doi.org/10.2169/internalmedicine.4599-20
Descripción
Sumario:Spastic paraplegia type 4 (SPG4) is caused by mutations of the SPAST gene and is the most common form of autosomal-dominantly inherited pure hereditary spastic paraplegia (HSP). We herein report a Japanese patient with SPG4 with a confirmed de novo mutation of SPAST. On exome sequencing and Sanger sequencing, we identified the heterozygous missense mutation p.R460L in the SPAST gene. This mutation was absent in the parents, and the paternity and maternity of the parents were both confirmed. The patient showed a pure SPG4 phenotype with an infantile onset. This study may expand the clinical and genetic findings for SPG4.

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