Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat-Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2).
Conflict of interest statement
The authors declare that they have no conflict of interest.
Mowat-Wilson SyndromeMP Adam et al. PMID 20301585. - ReviewMWS is an autosomal dominant disorder caused by a pathogenic variant in ZEB2, a heterozygous deletion of 2q22.3 involving ZEB2, or (rarely) a chromosome rea …
CHARGE-like Presentation, Craniosynostosis and Mild Mowat-Wilson Syndrome Diagnosed by Recognition of the Distinctive Facial Gestalt in a Cohort of 28 New CasesTL Wenger et al. Am J Med Genet A 164A (10), 2557-66. PMID 25123255.Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congeni …
Novel Zeb2 Gene Variation in the Mowat Wilson Syndrome (MWS)SW Moore et al. J Pediatr Surg 51 (2), 268-71. PMID 26852091. - Case ReportsMWS is an important link to recognise clinically. It underlines the functionality of the Zeb2 gene in certain syndromic Hirschsprung's disease. These variations probably …
ZEB2 Zinc-Finger Missense Mutations Lead to Hypomorphic Alleles and a Mild Mowat-Wilson SyndromeJ Ghoumid et al. Hum Mol Genet 22 (13), 2652-61. PMID 23466526. - Case ReportsMowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, e …
Mowat-Wilson SyndromeL Garavelli et al. Orphanet J Rare Dis 2, 42. PMID 17958891. - ReviewMowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medial …