Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome

The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. It is known that three regions on chromosome 11 p15 (BWSCR1, BWSCR2, and BWSCR3) may play a role in the development of BWS. BWSCR2 is defined by two BWS breakpoints. Here we describe the cloning and sequence analysis of 73 kb containing BWSCR2. Within this region, we detec ted a novel zinc-finger gene, ZNF215. We show that two of its five alternat ively spliced transcripts are disrupted by both BWSCR2 breakpoints. Parts o f the 3' end of these splice forms are transcribed from the antisense stran d of a second zinc-finger gene, ZNF214. We show that ZNF215 is imprinted in a tissue-specific manner.