Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy. Issue 6 (7th April 2021)

• Record Type: Journal Article
• Authors: Wang, Zhaoyu; Dong, Huijie; Ji, Xiaofei; Luan, Siyu; Cao, Hua
• Is Part Of: Journal of clinical laboratory analysis. Volume 35:Issue 6(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-04-07
• Subjects: hereditary spastic paraplegia -- insertion mutation -- polyneuropathy -- PRRT2; Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.23772
• Languages: English
• ISSNs: 0887-8013

Abstract

Abstract: 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.