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

WANG Hui; YAN Yu-Chun; LI Qi; ZHANG Zhen; XIAO Ping; YUAN Xin-Yu; LI Long; JIANG Qian

doi:10.7499/j.issn.1008-8830.2019.05.014

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Chinese Journal of Contemporary Pediatrics ›› 2019, Vol. 21 ›› Issue (5) : 468-473. DOI: 10.7499/j.issn.1008-8830.2019.05.014

CLINICAL RESEARCH

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

WANG Hui¹, YAN Yu-Chun², LI Qi³, ZHANG Zhen³, XIAO Ping⁴, YUAN Xin-Yu², LI Long³, JIANG Qian¹

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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.

Key words

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

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WANG Hui, YAN Yu-Chun, LI Qi, ZHANG Zhen, XIAO Ping, YUAN Xin-Yu, LI Long, JIANG Qian. Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases[J]. Chinese Journal of Contemporary Pediatrics. 2019, 21(5): 468-473 https://doi.org/10.7499/j.issn.1008-8830.2019.05.014

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