Chapter

<i>ZEB2</i> and Mowat-Wilson Syndrome

Meredith Wilson, Irina Giurgea and David Mowat

in Epstein's Inborn Errors of Development

Third edition

Published on behalf of Oxford University Press

Published in print June 2016 | ISBN: 9780199934522
Published online July 2016 | e-ISBN: 9780190213534 | DOI: http://dx.doi.org/10.1093/med/9780199934522.003.0054

Series: Oxford Monographs on Medical Genetics

ZEB2 and Mowat-Wilson Syndrome

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Mowat–Wilson syndrome (MWS) (OMIM 235730) is an intellectual disability–multiple congenital anomaly syndrome characterized by typical facies, severe intellectual disability (ID), epilepsy, and variable congenital malformations including Hirschsprung disease (HSCR), congenital heart disease (CHD), urogenital anomalies, and agenesis of the corpus callosum (ACC). Diagnosis can be made by clinical examination based on the combination of typical facial features with usually severe ID. MWS is caused by de novo heterozygous mutations or deletions of the ZEB2 (Zinc finger E-box binding homeobox 2) gene (OMIM 605802), previously known as ZFHX1B or SIP1. ZEB2 is located on 2q22 and encodes a transcriptional corepressor involved in the transforming growth factor-β (TGF-β) signaling pathway. ZEB2 is a highly evolutionarily conserved gene, widely expressed in embryological development. Individuals with clinically typical MWS usually have whole gene deletions or truncating mutations of ZEB2, suggesting that haploinsufficiency is the basis of MWS pathology. So far, studies do not suggest any genotype:phenotype correlations for patients with deletions or truncating mutations, but milder phenotypes have been reported with missense mutations.

Chapter.  4561 words.  Illustrated.

Subjects: Clinical Genetics

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