I don’t have BHD, but others in my extended family do. I am a scientist, and am the genealogist of the family. The NIH group (Schmidt, Toro, Linehan etc) have described at least one other family with the same mutation that runs in mine. I wrote to the lead author, Dr. Laura Schmidt, asking if we could be put in touch with other families with the same mutation, to see if we are related. She replied that she could not, due to confidentiality issues, but said “I would suggest you go to www.BHDSyndrome.org and post your idea on their blog. The other families may respond to you!”
I have just suggested to the BHD Foundation that they might consider setting up a confidential database for the purpose of putting people in touch with others having the same specific mutation in the FLCN gene; I don’t know if the BHD Foundation will be interested or able to do this. Meanwhile, I am volunteering to do it on an informal basis; I will keep a private database for this.
If you email me with your contact info (email or postal address) together with details of your family’s mutation (preferably referencing either 1) details from a DNA sequencing test result; 2) details reported in a specific published paper describing the mutation; or 3) an entry in Derek Lim’s FLCN LOVD database, https://grenada.lumc.nl/LOVD2/shared1/variants.php?select_db=FLCN&action=view_all&limit=250 ), I will put you in touch with others who contact me and have the same mutation. My email address is rtx at cox dot net (replace the “at” & “dot” with the usual symbols).
If there are enough replies, I expect that I will eventually put up a web site about the project. There, I would probably show a list of WHICH specific mutations in Derek Lim’s FLCN LOVD database I currently have family representatives for, but I would not show any details about the families. I expect this kind of web site and list would help attract more family representatives, and encourage them to participate.
My own personal interest is to try to find the earliest identifiable ancestor who (probably) had our specific folliculin mutation, then look into descendants to see who else may be at risk. If I can find other people with the same mutation, and then if our families prove to be related, it will help follow the trail of the mutation. It may also be interesting to look for patterns in symptoms, ages of presentation, etc for specific mutations. It may be interesting to try to see how often a given mutation arises spontaneously in unrelated families.
I am absolutely aware of confidentiality concerns. My intent is ONLY to put people in touch with others who have the identical mutation. However, I will not be able to verify that everyone who contacts me is who they say they are, and I can’t guarantee what others will do with your contact info, so if you can’t tolerate potential loss of confidentiality then you should not participate in this. (Eventually, IF this project gets off the ground and is not taken over by the BHD Foundation, I would be interested in hearing from scientific researchers with specific research interests. If they contact me I would forward their interests to families in the database, but I would NOT provide patient or family details to the researchers.)
If it helps set your mind at a bit more ease about me, I have a PhD in Biophysics, and I have for several years been administrator of a Y-chromosome DNA project for the Thrift, Frith & Firth surnames; see http://bit.ly/TFFDNA .
As a side note: I have also been involved in 23andME and “Family Finder” (Family Tree DNA) autosomal SNP testing and matching to identify distant relatives (though I have not found any matches yet in the region of the FLCN gene). If your family has taken either of these autosomal SNP tests, let me know and I can put all of these testees in touch with each other. This is a more confidential alternative instead of posting about BHD on the companies’ public forums, which many people may not be comfortable with. Maybe some of us will find distant family connections this way. For those with a 23andMe account, I’ve commented in this thread on BHD: