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


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.

SUBMITTER: Baxter AL 

PROVIDER: S-EPMC5498959 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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A Novel Partial Duplication of <i>ZEB2</i> and Review of <i>ZEB2</i> Involvement in Mowat-Wilson Syndrome.

Baxter Adrianne L AL   Vivian Jay L JL   Hagelstrom R Tanner RT   Hossain Waheeda W   Golden Wendy L WL   Wassman E Robert ER   Vanzo Rena J RJ   Butler Merlin G MG  

Molecular syndromology 20170503 4


Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the <i>ZEB2</i> gene in chromosome 2q22.3. Over 180 distinct mutations in <i>ZEB2</i> 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  ...[more]

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