Open AccessAssociation of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
Author(s) -
Wang Zhaoyu,
Dong Huijie,
Ji Xiaofei,
Luan Siyu,
Cao Hua
Publication year - 2021
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23772
Subject(s) - hereditary spastic paraplegia , mutation , paraplegia , polyneuropathy , medicine , spastic , genetics , physical medicine and rehabilitation , biology , phenotype , gene , spinal cord , cerebral palsy , psychiatry
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.