ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome

Ersida Buraniqi; Manikum Moodley

doi:10.1177/0883073814535501

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome

J Child Neurol. 2015 Jan;30(1):32-6. doi: 10.1177/0883073814535501. Epub 2014 Jul 14.

Authors

Ersida Buraniqi¹, Manikum Moodley²

Affiliations

¹ Istanbul School of Medicine, Istanbul University, Istanbul, Turkey.
² Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA [email protected].

PMID: 25028418
DOI: 10.1177/0883073814535501

Abstract

Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in the ZEB2 gene, and in addition a duplication of the 22q11.23, a previously undocumented occurrence.

Keywords: ZEB2 gene; Mowat-Wilson syndrome; duplication of 22q11.23.

Publication types

Case Reports

MeSH terms

Brain / pathology
Child, Preschool
Chromosomes, Human, Pair 22 / genetics
Facies
Female
Hirschsprung Disease / complications
Hirschsprung Disease / genetics*
Homeodomain Proteins / genetics*
Humans
Intellectual Disability / complications
Intellectual Disability / genetics*
Magnetic Resonance Imaging
Microcephaly / complications
Microcephaly / genetics*
Mutation / genetics*
Repressor Proteins / genetics*
Trisomy / genetics*
Trisomy / pathology
Zinc Finger E-box Binding Homeobox 2

Substances

Homeodomain Proteins
Repressor Proteins
ZEB2 protein, human
Zinc Finger E-box Binding Homeobox 2

Supplementary concepts

Chromosome 22, trisomy q11 q13
Mowat-Wilson syndrome