1例常染色体隐性痉挛性截瘫55型的临床特点和C12orf65基因突变分析

该文报道1例常染色体隐性痉挛性截瘫55型患儿的临床特征及C12orf65基因突变特点。患儿女，8岁，5岁起病，以视神经萎缩为主要临床表现，伴有蹲起缓慢和轻度鸭形步态。提取患儿及其父母和哥哥外周血DNA标本，对患儿进行全外显子组和线粒体基因组测序，并进行Sanger测序验证。结果显示患儿C12orf65基因存在c.394C > T和c.447_449delGGAinsGT的复合杂合突变，前者来自父亲，为已知致病突变；后者来自母亲，是一个未见文献报道的新突变。该研究扩展了C12orf65基因突变谱，为患儿病因诊断及该家系的遗传咨询提供了分子依据。

Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report

This article reports the clinical features and C12orf65 gene mutations of a girl with autosomal recessive spastic paraplegia-55. The 8-year-old girl experienced disease onset at the age of 5 years and had optic atrophy as the main clinical manifestation, with slow movements in standing up and a slight duck-shaped gait. Peripheral blood DNA samples were collected from this child and her parents and brother to perform high-throughput whole-exome sequencing and high-throughput mitochondrial genome sequencing. Sanger sequencing was performed for verification. The results showed two compound heterozygous mutations, c.394C > T and c.447_449delGGAinsGT, in the C12orf65 gene. The former mutation came from her father and was a known pathogenic mutation, and the latter came from her mother and was a novel mutation which had not been reported in literature. This study expands the mutation spectrum of the C12orf65 gene and thus provides a molecular basis for the etiological diagnosis of the child and the genetic counseling of the family.