Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome

Williams-Beuren syndrome (WBS) is a complex developmental disorder involvin g the hemizygous deletion of genes on chromosome 7q11.23. The cardiovascula r aspects of the disorder are known to be caused by haploinsufficiency for ELN, but the genes contributing to the other features of WBS are still unde termined. Fifteen genes have been shown to reside within the WBS deletion, and here we report the identification and cloning of an additional gene tha t is commonly deleted. WBSCR11, which was identified through genomic DNA se quence analysis and cDNA library screening, was positioned toward the telom eric end of the WBS deletion. The gene is expressed in all adult tissues an alyzed, including many regions of the brain. The predicted protein displays homology to another gene from the WBS deletion, GTF21 which is known to be a transcription factor. We postulate that WBSCR11 is also a transcription factor and may contribute to the spectrum of developmental symptoms found i n WBS. (C) 1999 Academic Press.