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Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome
Susan B Murray1, Brooke B Spangler1,2, Benjamin M Helm1,2
1Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
Insights
Mowat-Wilson syndrome (MWS) is a genetic disorder causing intellectual disability and distinct facial features. A novel finding in a MWS patient was polymicrogyria, a brain malformation, highlighting central nervous system anomalies in this condition.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Mowat-Wilson syndrome (MWS) is a rare genetic disorder.
- It is caused by ZEB2 gene mutations.
- MWS is characterized by intellectual disability, seizures, microcephaly, and distinct facial features.
Observation:
- A 10-month-old boy with typical MWS features was studied.
- Brain MRI revealed polymicrogyria, a previously unreported finding in MWS.
- This case highlights central nervous system (CNS) anomalies in MWS.
Findings:
- The patient presented with polymicrogyria, a novel CNS finding in Mowat-Wilson syndrome.
- A review of literature confirms various structural brain abnormalities in MWS patients.
- ZEB2 gene mutations are linked to these diverse neurological manifestations.
Implications:
- This case expands the spectrum of CNS anomalies associated with Mowat-Wilson syndrome.
- Understanding ZEB2's role in neurodevelopment is crucial for MWS.
- Further research is needed to elucidate the precise mechanisms linking ZEB2 to polymicrogyria.
Abstract:
Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features. Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies. It is caused by de novo heterozygous mutations or deletions of the ZEB2 gene on chromosome 2q21-q23. We report here on a 10-month-old boy with typical features of MWS who presented with the novel finding of polymicrogyria on brain magnetic resonance imaging. We also review the current literature regarding central nervous system anomalies in MWS.
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