Guest guest Posted May 29, 2007 Report Share Posted May 29, 2007 Hi Everyone, here from Ireland, 's mum. We got 's results back from the genetics centre and it says that the FoxL2 gene is totally deleted. I was wondering has anyone else had this same result?? I have only heard of partial deletion up until now, which could cause POF, but with the gene being completely deleted we are trying to understand the impact. Our geneticist has said that in his opinion that if the gene is fully deleted that means there will be complete infertility - no egg production etc.. But I am finding that hard to digest. So I was just wondering if anyone else was told they had full gene deletion so we could hopefully find out more about the impact? Sorry to have missed you all at the UK meet up, we are over in the UK in August to see Mr Collin for the day to see what the options are on future surgeries, and we are hoping to make it to the next one with , as it sounded fantastic, and Shireen did a fab job!! I'd appreciate any info anyone can provide on the gene deletion, if you'd prefer to send me a mail directly or call just let me know. Thanks & hope everyone is keeping well! x Kildare, IrelandSend instant messages to your online friends http://uk.messenger. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 27, 2010 Report Share Posted October 27, 2010 Jackie, Gene testing for CMT 2 subtypes is limited at this time. I think CMT 2J was the last one. A group of researchers will meet this fall to develop protocols, models, exchange info etc. Supposedly there is a rat model in Germany that is awaiting research. I would wait longer before genetic testing. Are you participating in the Type 2 research project at U of Miami? Gretchen Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 27, 2010 Report Share Posted October 27, 2010 No. I spoke with them at a symposium and I am not a candidate since I have been negative and no family history they felt like they would be shooting in the dark Sent from my iPhone On Oct 26, 2010, at 8:30 PM, " gfijig " <gfijig@...> wrote: > Jackie, > > Gene testing for CMT 2 subtypes is limited at this time. I think CMT > 2J was the last one. A group of researchers will meet this fall to > develop protocols, models, exchange info etc. Supposedly there is a > rat model in Germany that is awaiting research. > > I would wait longer before genetic testing. > > Are you participating in the Type 2 research project at U of Miami? > > Gretchen > > Quote Link to comment Share on other sites More sharing options...
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