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
em Zh
| WPRIM
| ID: wpr-775049
Biblioteca responsável:
WPRO
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.
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Índice:
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Assunto principal:
Linhagem
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Paraplegia Espástica Hereditária
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Fatores de Terminação de Peptídeos
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Proteínas Mitocondriais
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Sequenciamento de Nucleotídeos em Larga Escala
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Genética
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Mutação
Limite:
Child
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2019
Tipo de documento:
Article