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Novel mutation in exon11 of PRKCG (SCA14): A case report
- Source :
- Frontiers in Genetics, Vol 14 (2023)
- Publication Year :
- 2023
- Publisher :
- Frontiers Media S.A., 2023.
-
Abstract
- Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus. Until now, there has never been a report of patients with mutations of c.1232G>C worldwide.Case description: We report a case of a 30-year-old Chinese man with episodic dystaxia, speech disorder, and cognitive impairment; however, his father exclusively exhibited a speech disorder regardless of the same mutation. Whole-exome sequencing revealed a heterozygous c.1232G>C (p.G411A) variant of PRKCG.Conclusion: This case presents an extended genotype and phenotype of SCA14, and emphasizes the importance of gene sequencing in patients with spinocerebellar ataxia.
Details
- Language :
- English
- ISSN :
- 16648021
- Volume :
- 14
- Database :
- Directory of Open Access Journals
- Journal :
- Frontiers in Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.88ba44e5da09469ab24d86afa719134d
- Document Type :
- article
- Full Text :
- https://doi.org/10.3389/fgene.2023.1129988