Ontology highlight
ABSTRACT:
SUBMITTER: Alders M
PROVIDER: S-EPMC1378011 | biostudies-other | 2000 May
REPOSITORIES: biostudies-other
Alders M M Ryan A A Hodges M M Bliek J J Feinberg A P AP Privitera O O Westerveld A A Little P F PF Mannens M M
American journal of human genetics 20000410 5
The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. It is known that three regions on chromosome 11p15 (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 detected a novel zinc-finger gene, ZNF215. We show that two of its five alternatively spliced transcripts are disrupted by both BW ...[more]