Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 539-542, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-826538
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a proband with distinctive facial features, global developmental delay, seizures and hypoplasia of corpus callosum through next generation sequencing (NGS).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Whole exome and flanking sequences were screened by NGS. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene, which was verified by Sanger sequencing to be a de novo variant.@*CONCLUSION@#The heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene probably underlies the Mowat-Wilson syndrome in the proband.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Variação Genética
/
Fácies
/
Homeobox 2 de Ligação a E-box com Dedos de Zinco
/
Sequenciamento do Exoma
/
Genética
/
Heterozigoto
/
Doença de Hirschsprung
/
Deficiência Intelectual
/
Microcefalia
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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