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

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.

• Authors: Ersida Buraniqi, Manikum Moodley
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 1 Pg. 32-6 (Jan 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 25028418 (Publication Type: Case Reports, Journal Article)
• Copyright: © The Author(s) 2014.

Chemical References

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

Topics

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