ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome

Buraniqi E., Moodley M.

JOURNAL OF CHILD NEUROLOGY, vol.30, no.1, pp.32-36, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 1
  • Publication Date: 2015
  • Doi Number: 10.1177/0883073814535501
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.32-36
  • Istanbul University Affiliated: Yes

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.