Genetic diagnosis of hereditary spastic paraplegia in a family: one case report and literature review

Abstract

Objective To genetically analyze a family with hereditary spastic paraplegia in order to provide theoretical basis for the pathogenesis and treatment of the disease. Methods Clinical data of a male patient suffering from the hereditary disease admitted to the Genetic Counseling Clinic of the Second Affiliated Hospital on April 30, 2021 were collected. After the patient and his family members signed our informed consent, a family survey and genealogical analysis was conducted, and their peripheral blood genomic DNA was extracted for genetic testing and analysis. Results The patient manifested with progressive lower limb spasticity and weakness, and imaging suggested thin corpus callosum. Whole exome sequencing and Sanger sequencing indicated that the patient was identified with a double allelic deletion c.733_734del (p.M245Vfs*2) in the SPG 11 gene, and this mutation was determined to be pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. The patient was diagnosed with hereditary spastic paraplegia type 11, and his 7 family members carred this mutation. Conclusion This family is a hereditary spastic paraplegia type 11 caused by the pathogenic pure deletion mutation c.733_734del(p.M245Vfs*2) in the SPG 11 gene. The patient has typical clinical manifestations of the disease. It is very important to use molecular genetic techniques for genetic confirmation and pre-symptomatic diagnosis of family members.

Keywords

• hereditary spastic paraplegia
• spg 11 gene
• genetic diagnosis