Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 468-473, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-774050
ABSTRACT
Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-box-binding homeobox 2 (ZEB2) gene mutation and has various clinical manifestations including intellectual disability/global developmental delay, unusual facies and multiple congenital malformations. This article reports the clinical features and gene mutations of three children diagnosed with MWS by ZEB2 gene analysis. All three children had Hirschsprung disease and unusual facies. One child died of severe heart failure and pneumonia at the age of 4 months. Global developmental delay was not discovered by her parents due to her young age. The other two children had severe global developmental delay. All three children carried a de novo heterozygous nonsense mutation in the ZEB2 gene, among which c.756C>A (p.Y252X) had not been reported before. Such mutations produced truncated proteins and were highly pathogenic. MWS is presented with strong clinical and genetic heterogeneity. Clinicians should consider the possibility of MWS when a child has unusual facies of MWS, intellectual disability/global developmental delay and multiple congenital malformations. Gene detection helps to make a confirmed diagnosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Proteínas Represoras
/
Proteínas de Homeodominio
/
Facies
/
Enfermedad de Hirschsprung
/
Discapacidad Intelectual
/
Microcefalia
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2019
Tipo del documento:
Artículo
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