A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 268-271, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-687962
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic basis for a patient with oculodentodigital dysplasia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.</p><p><b>RESULTS</b>A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.</p><p><b>CONCLUSION</b>The c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Dentárias
/
Deformidades Congênitas do Pé
/
Anormalidades do Olho
/
Análise de Sequência de DNA
/
Conexina 43
/
Sindactilia
/
Anormalidades Craniofaciais
/
Exoma
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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