An analysis of GNAS and THRA gene mutations in children with congenital hypothyroidism / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 680-684, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-775124
ABSTRACT
OBJECTIVE@#To preliminarily investigate the relationship between stimulatory G protein α subunit (GNAS) and thyroid hormone receptor α (THRA) gene mutations and clinical phenotypes in children with congenital hypothyroidism (CH).@*METHODS@#A total of 70 children with CH diagnosed by neonatal screening were enrolled. Their peripheral blood samples were collected to extract genomic DNA. GNAS and THRA genes were screened for mutations using next-generation sequencing. Bioinformatics software was used to analyze the pathogenicity of gene mutations.@*RESULTS@#Of the 70 children with CH, nine missense mutations (three known mutations and six novel mutations) in the GNAS gene were detected in three patients (4%), and one gene polymorphism, c.508A>G(p.I170V), in the THRA gene was detected in four patients. The analysis results of bioinformatics software and ACMG/AMP guidelines showed that the two GNAS gene mutations [c.301C>T(p.R101C) and c.334G>A(p.E112K)] were more likely to be pathogenic. Three children with GNAS gene mutations showed different degrees of hypothyroidism.@*CONCLUSIONS@#GNAS gene mutations are related to the development of CH, and children with CH have different clinical manifestations. THRA gene mutations may not be associated with CH.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Cromograninas
/
Genes erbA
/
Subunidades alfa Gs de Proteínas de Ligação ao GTP
/
Hipotireoidismo Congênito
/
Receptores alfa dos Hormônios Tireóideos
/
Genética
/
Mutação
Tipo de estudo:
Guia de Prática Clínica
Limite:
Humanos
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2019
Tipo de documento:
Artigo
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