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

Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the gene in chromosome 2q22.3. Over 180 distinct mutations in 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 gene. Sequence analysis identified no other variants in this gene. This is the first report of a partial duplication of the gene resulting in Mowat-Wilson syndrome.