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. 2017 Jun;8(4):211-218.
doi: 10.1159/000473693. Epub 2017 May 3.

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome

Adrianne L Baxter  1 , Jay L Vivian  2 , R Tanner Hagelstrom  3 , Waheeda Hossain  4 , Wendy L Golden  1 , E Robert Wassman  1 , Rena J Vanzo  1 , Merlin G Butler  4
Affiliations

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome

Adrianne L Baxter et al. Mol Syndromol. 2017 Jun.

Abstract

Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the ZEB2 gene in chromosome 2q22.3. Over 180 distinct mutations in ZEB2 have been reported, including nonsense and missense point mutations, deletions, and large chromosomal rearrangements. We report on a 14-year-old female with a clinical diagnosis of Mowat-Wilson syndrome. Chromosomal microarray identified a novel de novo 69-kb duplication containing exons 1 and 2 of the ZEB2 gene. Sequence analysis identified no other variants in this gene. This is the first report of a partial duplication of the ZEB2 gene resulting in Mowat-Wilson syndrome.

Keywords: Mowat-Wilson syndrome; Partial duplication; ZEB2.

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Figures

Fig. 1
Fig. 1
Facial frontal (a) and profile (b) views of our patient at age 14 years showing medial flare of the eyebrows, depressed and wide nasal root, hypertelorism with downslanting palpebral fissures, ptosis, short prominent nose with a broad nasal tip, short philtrum, full everted lips, downturned corners of mouth, and posteriorly rotated ears with attached earlobes.
Fig. 2
Fig. 2
Chromosomal microarray analysis showing the 69-kb interstitial duplication of chromosome 2q22.3 (chr2:145,218,807–145,287,401 with hg build 19) found in our patient performed by Lineagen, Inc. ZEB2 is partially duplicated in this region.
Fig. 3
Fig. 3
Diagram of the putative interstitial duplication within the ZEB2 locus encompassing exons 1 and 2 and intron 1 with part of intron 2 identified in our patient with Mowat-Wilson syndrome identified with high-resolution chromosomal microarray analysis.
Fig. 4
Fig. 4
UCSC Genome Browser view showing the current patient and previously reported copy number gains involving ZEB2.
See this image and copyright information in PMC

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