Abstract 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.
LIN Shuang-Zhu,SUN Xian-Ting,MA Hong-Wei. Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report[J]. CJCP, 2019, 21(11): 1094-1098.
LIN Shuang-Zhu,SUN Xian-Ting,MA Hong-Wei. Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report[J]. CJCP, 2019, 21(11): 1094-1098.
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