Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report.
- Author:
Shuang-Zhu LIN
1
;
Xian-Ting SUN
;
Hong-Wei MA
Author Information
1. Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun 130021, China. mahongwei1960@163.com.
- Publication Type:Case Reports
- MeSH:
Child;
Female;
High-Throughput Nucleotide Sequencing;
Humans;
Male;
Mitochondrial Proteins;
genetics;
Mutation;
Pedigree;
Peptide Termination Factors;
genetics;
Spastic Paraplegia, Hereditary;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(11):1094-1098
- CountryChina
- Language:Chinese
-
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.
