Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1224-1227, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-922029
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).@*METHODS@#Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls.@*RESULTS@#The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases.@*CONCLUSION@#The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
China
/
Superóxido Dismutase-1
/
Sequenciamento do Exoma
/
Heterozigoto
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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