Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 836-839, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-775825
ABSTRACT
OBJECTIVE@#To carry out variant analysis for a Chinese boy featuring dyshormonogenesis due to congenital hypothyroidism.@*METHODS@#DNA of the patient and his parents was extracted and sequenced by high-throughput sequencing. The results were validated with Sanger sequencing and analyzed with Bioinformatics software.@*RESULTS@#Sequencing result showed that the patient has carried compound variants of c.2654G>T(p.Arg885Leu) and c.943G>T(p.Gly315X) of the DUOX2 gene, which were inherited respectively from his mother and father.@*CONCLUSION@#The missense mutation c.2654G>T and nonsense mutation c.943G>T probably underlie the disease in this child.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Mutação de Sentido Incorreto
/
Hipotireoidismo Congênito
/
Diagnóstico
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Oxidases Duais
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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