Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy

• Main Authors: Cao, H. (Author), Dong, H. (Author), Ji, X. (Author), Luan, S. (Author), Wang, Z. (Author)
• Format: Article
• Language: English
• Published: John Wiley and Sons Inc 2021
• Subjects: adult; amino acid substitution; arginine; Article; autosomal dominant disorder; blood analysis; case report; clinical article; DNA extraction; exon; family study; female; Female; gene insertion; gene location; gene mutation; genetic association; genetics; genomic DNA; hereditary motor sensory neuropathy; hereditary spastic paraplegia; human; Humans; indel mutation; INDEL Mutation; insertion mutation; male; Male; membrane protein; Membrane Proteins; middle aged; Middle Aged; mutational analysis; nerve protein; Nerve Tissue Proteins; nuclear magnetic resonance imaging; paresthesia; pathogenesis; pedigree; Pedigree; physical examination; Polyneuropathies; polyneuropathy; proline; proline rich transmembrane protein 2; PRRT2; PRRT2 gene; PRRT2 protein, human; sequence analysis; Spastic Paraplegia, Hereditary; unclassified drug; weakness; whole exome sequencing
• Online Access: View Fulltext in Publisher
• ISBN: 08878013 (ISSN)
• DOI: 10.1002/jcla.23772

Background: Hereditary spastic paraplegia is a rare familial hereditary neurodegenerative disease caused by multiple autosomal dominant mutations. More than 50 mutant genes have been reported to be associated with this disease. Methods: In this study, we have reported a rare insertion mutation site in PRRT2 that caused a familial disorder of hereditary spastic paraplegia accompanied by polyneuropathy. Results: We used second-generation sequencing of samples of the proband's familial genome and found an insertion mutation of C/CC in NM_001256443:c.641dupC that was localized to the second exon of PRRT2. This functional mutation can cause an amino acid sequence change (arginine >proline) and dysfunctional neuronal transmembrane proteins, which might have been related to the onset of hereditary spastic paraplegia accompanied by polyneuropathy in the family reported in this study. Conclusion: The discovery of this mutation site provides an important theoretical basis for specific gene-based diagnosis and treatment of hereditary spastic paraplegia. © 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC