期刊
FRONTIERS IN GENETICS
卷 14, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2023.1130687
关键词
complicated spastic paraplegia; FARS2; deletion; SPG77; severe
In this study, an 8-year-old patient with severe and complicated spastic paraplegia was found to carry a missense variant and a novel intragenic deletion in the FARS2 gene. The disease in this patient progressed rapidly and in a biphasic way, which differs from previously reported cases. This study provides a detailed molecular characterization of a FARS2 deletion and highlights the importance of combining different tools to improve the diagnostic rate.
Defects in FARS2 are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel intragenic deletion in FARS2. Of note, the disease is unexpectedly progressing rapidly and in a biphasic way differently from the previously reported cases. Our study provides the first detailed molecular characterization of a FARS2 deletion and its underlying molecular mechanism, and demonstrates the need for combining different tools to improve the diagnostic rate.
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