DUOX2 gene mutation in patients with congenital goiter with hypothyroidism / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 943-946, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-356337
ABSTRACT
<p><b>OBJECTIVE</b>To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.</p><p><b>METHOD</b>Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.</p><p><b>RESULT</b>A heterozygous missense mutation C1329T in the exon 10 of the DUOX2 gene was found in one patient, predicted to result in a Tryptophan to Arginine substitution at codon 376. However no mutation was detected in the other patients.</p><p><b>CONCLUSION</b>p.Arg376Trp mutation in DUOX2 was found in newborns of congenital hypothyroidism. The alleles frequency of this mutation may contribute to the function loss of congenital hypothyroidism.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Éxons
/
NADPH Oxidases
/
Hipotireoidismo Congênito
/
Oxidases Duais
/
Genética
/
Bócio
/
Mutação
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2011
Tipo de documento:
Artigo
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