Williams Beuren Syndrome Chromosome Region 28 (WBSCR28)

Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.

By searching EST databases for sequences mapping to the region of chromosome 7 deleted in Williams-Beuren syndrome (WBS), Micale et al. (2008) identified and cloned WBSCR28. They also identified the mouse Wbscr28 gene. Northern blot analysis of several mouse tissues detected Wbscr28 expression in testis only.Micale et al. (2008) mapped the WBSCR28 gene to chromosome 7q11.23 within the interval deleted in WBS.