{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Gao SY"],"pubmed_abstract":["<b>Background:</b> Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the <i>WASHC5</i> gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8). However, due to the small number of reported cases, the exact mechanism remains unclear. <b>Method:</b> We report a Chinese family with HSP. The proband was referred to our hospital due to restless leg syndrome and insomnia. The preliminary clinical diagnosis of the proband was spastic paraplegia. Whole-exome sequencing (WES) and RNA splicing analysis were conducted to evaluate the genetic cause of the disease in this family. <b>Results:</b> A novel splice-altering variant (c.712-2A>G) in the <i>WASHC5</i> gene was detected and further verified by RNA splicing analysis and "],"journal":["Frontiers in genetics"],"pagination":["1205052"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10644772"],"repository":["biostudies-literature"],"pubmed_title":["Case report: A novel <i>WASHC5</i> variant altering mRNA splicing causes spastic paraplegia in a patient."],"pmcid":["PMC10644772"],"pubmed_authors":["Gao SY","Fan LL","Dong Y","Liu L","Liu YX","Ding Q"],"additional_accession":[]},"is_claimable":false,"name":"Case report: A novel <i>WASHC5</i> variant altering mRNA splicing causes spastic paraplegia in a patient.","description":"<b>Background:</b> Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the <i>WASHC5</i> gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8). However, due to the small number of reported cases, the exact mechanism remains unclear. <b>Method:</b> We report a Chinese family with HSP. The proband was referred to our hospital due to restless leg syndrome and insomnia. The preliminary clinical diagnosis of the proband was spastic paraplegia. Whole-exome sequencing (WES) and RNA splicing analysis were conducted to evaluate the genetic cause of the disease in this family. <b>Results:</b> A novel splice-altering variant (c.712-2A>G) in the <i>WASHC5</i> gene was detected and further verified by RNA splicing analysis and ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2026-05-16T03:17:50.155Z","creation":"2025-02-19T01:16:25.233Z"},"accession":"S-EPMC10644772","cross_references":{"pubmed":["38028608"],"doi":["10.3389/fgene.2023.1205052"]}}