+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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



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



Zhongguo Dang Dai Er Ke Za Zhi 21(5): 468-473



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.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 066798111

Download citation: RISBibTeXText

PMID: 31104665


Related references

Clinical features and management issues in Mowat-Wilson syndrome. American Journal of Medical Genetics. Part a 140(24): 2730-2741, 2006

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. Journal of Medical Genetics 41(5): 387-393, 2004

Mowat-Wilson syndrome: the first two Malaysian cases. Singapore Medical Journal 51(3): E54-E57, 2011

Mowat-Wilson syndrome: a report of three Danish cases. Ugeskrift for Laeger 173(36): 2199-2200, 2011

Clinical and mutational spectrum of Mowat-Wilson syndrome. European Journal of Medical Genetics 48(2): 97-111, 2005

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. American Journal of Medical Genetics. Part a 167(7): 1587-1592, 2016

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. Case Reports in Genetics 2012: 949507, 2012

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of Applied Genetics 51(1): 111-113, 2010

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B Confirmation of the Mowat-Wilson syndrome. American Journal of Medical Genetics 116A(4): 385-388, February 1, 2003

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. American Journal of Medical Genetics. Part a 116a(4): 385-388, 2003

Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). Child's Nervous System 24(5): 615-618, 2008

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. American Journal of Medical Genetics. Part a 164a(10): 2557-2566, 2015

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. Journal of Medical Genetics 41(2): E16, 2004

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. Journal of Medical Genetics 40(8): 601-605, 2003

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. Hormone Research 63(4): 187-192, 2005