AUTHOR=Sun Rong , Tang Xiang , Cao Xueqin , Shao Xinyu , Sun Hong 

TITLE=Novel mutation in exon11 of PRKCG (SCA14): A case report

JOURNAL=Frontiers in Genetics

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1129988

DOI=10.3389/fgene.2023.1129988

ISSN=1664-8021

ABSTRACT=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 been no report of patients with mutations of c.1232G>C worldwide. 
Case description: We reported 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 the heterozygous c.1232G>C (p.G411A) variant of PRKCG.
Conclusion: This case reports an extended genotype and phenotype of SCA14, emphasizing the importance of gene sequencing in patients with spinocerebellar ataxia.