Schwannomatosis Gene

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  <A HREF="id300.htm" TARGET="_top" TITLE="Clues to Nf1">Clues to Nf1</A></div> <div> Schwannomatosis Gene </div> <DIV ALIGN="LEFT"></DIV> <div> <B>Candidate Schwannomatosis Gene Announced!</B></div> <bR> <div> <FONT SIZE="2" COLOR="#376289" FACE="Verdana" ><B>February 3rd, 2007:</B></FONT> In a tremendously exciting breakthrough, a team from the University of Amsterdam has identified a candidate for the elusive Schwannomatosis gene. </div> <bR> <div> Like the NF1 and NF2 genes, the candidate Schwannomatosis gene, named INI1, is a tumor suppressor that regulates cell cycle, growth and differentiation. INI1 is also known as SMARCB1, hSNF5, or BAF47, and lies on human Chromosome 22. INI1 is also mutated in other tumors including malignant brain & kidney tumors in infants. </div> <bR> <div> In the past other researchers have investigated a role for INI1 in Schwannomatosis but to no avail. However the Amsterdam study, authored by Dr. Theo Hulsebos, Dr. Peter Wesseling & colleagues, homed in on a specific region of INI1 - Exon 1 - that had not previously been closely studied in Schwannomatosis patients. To do the study they examined samples from a woman with clinically diagnosed Schwannomatosis and from her deceased father who also had Schwannomatosis. They found that both the father & daughter had the same inactivating IN1 gene mutation in both germline (blood) and somatic (tumor) cells - making a convincing case for INI1 as the Schwannomatosis gene. These findings have been accepted for publication in The American Journal of Medical Genetics. The preprint of this paper is available to subscribers at <A HREF="http://www.ashg.org " TARGET="_blank" TITLE="http://www.ashg.org ">www.ashg.org</A></div> <bR> <div> Schwannomatosis affects an estimated 1:40,000 and is associated with extensive nerve tumors and intractable pain. The gene has remained elusive in large part because the majority of cases are spontaneous, making it difficult to study genetically. In addition diagnostic criteria for the disorder were published only quite recently in 2005. </div> <bR> <div> It remains for this finding to be confirmed in additional Schwannomatosis patient samples by other research groups. However, the identification of a candidate Schwannomatosis gene is a huge event for the research community focused on this disorder. It means that scientists can now begin to unravel the molecular basis of this confounding disorder and to finally begin progress towards understanding the disorder and developing treatments, bringing hope to those affected by this devastating disorder</div> <DIV ALIGN="LEFT"></DIV> <div> <A HREF="http://www.ctf.org" TARGET="_blank" TITLE="http://www.ctf.org">www.ctf.org</A></div> </td> </tr></table></body>