Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1094-1098, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-775049
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Spastic Paraplegia, Hereditary
/
Peptide Termination Factors
/
Mitochondrial Proteins
/
High-Throughput Nucleotide Sequencing
/
Genetics
/
Mutation
Limits:
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2019
Type:
Article
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