Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 21-24, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-781303
ABSTRACT
OBJECTIVE@#To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2.@*RESULTS@#The child was found to carry compound heterozygous variations c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c.2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c.2266C>T has not been reported previously and was predicted to be harmful.@*CONCLUSION@#The compound variants of c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Distrofias Neuroaxonais
/
Fosfolipases A2 do Grupo VI
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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