| Autor: |
Baxter AL; Lineagen, Inc., Salt Lake City, UT., Vivian JL; Department of Pathology and Laboratory Medicine., Hagelstrom RT; Department of Human Genetics Laboratory, University of Nebraska Medical Center, Omaha, NE, USA., Hossain W; Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS., Golden WL; Lineagen, Inc., Salt Lake City, UT., Wassman ER; Lineagen, Inc., Salt Lake City, UT., Vanzo RJ; Lineagen, Inc., Salt Lake City, UT., Butler MG; Department of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS. |
| Abstrakt: |
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. |
