关键词:

遗传性痉挛性截瘫, 显性遗传, 全外显子组测序, ATL1基因

Abstract:

Objective To identify the pathogenic mutation in a Chinese family with autosomal dominant spastic paraplegia. Methods The clinical data of a family with hereditary spastic paraplegia was collected. The genomic DNA of the proband and his family members was extracted. The whole exon sequencing was performed to detect the proband and identify the candidate gene pathogenic sites. Sanger sequencing technology was used to identify the candidate gene pathogenic sites. Results Results of the whole exome sequencing showed that there was a heterozygous mutation c.715 C > T（p. R239C）in exon 10 of ATL1 gene in the proband，which was reported to cause hereditary spastic paraplegia. Sanger sequencing revealed the same mutation existed in other patients in this family，but this mutation was not detected in the normal members in this family. Conclusion The c.715C > T heterozygous mutation of ATL1 gene is the pathogenic mutation of hereditary spastic paraplegia in this family，and identification of this pathogenic mutation will be helpful for genetic counseling and prenatal diagnosis of this family.

Key words:

hereditary spastic paraplegia, dominant inheritance, whole exome sequencing, ATL1 gene