Journal
JOURNAL OF CLINICAL LABORATORY ANALYSIS
Volume 35, Issue 6, Pages -Publisher
WILEY
DOI: 10.1002/jcla.23772
Keywords
hereditary spastic paraplegia; insertion mutation; polyneuropathy; PRRT2
Categories
Ask authors/readers for more resources
This study reported a rare insertion mutation site in PRRT2 causing familial hereditary spastic paraplegia with polyneuropathy. The discovery of this mutation site provides an important theoretical basis for specific gene-based diagnosis and treatment of hereditary spastic paraplegia.
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available