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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Variación Genética
/
Facies
/
Caja Homeótica 2 de Unión a E-Box con Dedos de Zinc
/
Secuenciación del Exoma
/
Genética
/
Heterocigoto
/
Enfermedad de Hirschsprung
/
Discapacidad Intelectual
/
Microcefalia
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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