Clinical and genetic features of Mowat-Wilson syndrome: An analysis of 3 cases

Hui Wang, Yu Chun Yan, Qi Li, Zhen Zhang, Ping Xiao, Xin Yu Yuan, Long Li, Qian Jiang

Research output: Contribution to journalArticlepeer-review


Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-boxbinding 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.

Original languageEnglish (US)
Pages (from-to)468-473
Number of pages6
JournalChinese Journal of Contemporary Pediatrics
Issue number5
StatePublished - May 25 2019
Externally publishedYes


  • Child
  • Gene mutation
  • Mowat-Wilson syndrome
  • Zinc finger E-box-binding homeobox 2 gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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