Talk:Laurence-Moon syndrome

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[edit] LMS and BBS: connected or not?

I hope someone with a bit more knowledge can expand on this for me. In particular, it might be worth checking the ICD classification numbers, which I found at malattierare.pediatria.unipd.it. They seem to be exactly the same as for Bardet-Biedl syndrome, which is a bit odd since these are supposed to be separate conditions. -- Sakurambo 10:12, 18 May 2006 (UTC)

I think I can help you just a bit. The primary difficulty is that the science is moving forward quite rapidly in the past 8 years. As a result, some of the material reflected in many places, such as Wikipedia but also in "state-of-the-art" papers published less than a decade ago, is simply out of date. And by definition, not all of the sites with information can agree given the dynamic nature of the discoveries.

For example, I understand that 12 BBS genes have now been identified. I've only been able to find articles on the web about genes up through BBS10. I've heard through the "research grapevine" that BBS11 and BBS12 were identified in the past few months. I'm sure papers are being written (or have been recently written) and are moving through the research-publication-process pipeline right now.

With respect to your specific question on the tie between BBS and LMS: I understand that Laurence-Moon syndrome -- which from 1866 through the 1990s was always only a "clinical" diagnosis -- is now specifically identified with gene BBS6. That is to say, a genetic mutation (only recently) identified as BBS6 is now believed to be the cause of what was, by many doctors, diagnosed as Laurence Moon Syndrome in the past. Of course, with BBS and LMS being so extremely rare, I'm quite certain that many folks with actual LMS were diagnosed as having BBS or some other rare syndrome; just as many folks diagnosed with BBS today have been previously (mis?) diagnosed with something else, including no doubt for some of them, LMS. Clinical diagnosis is not an exact science.

Also, within those folks diagnosed with BBS today, there is tremendous variability in how the disease presents itself; see for example the 1999 paper in the external refs on the BBS page. Thus, in my view, both BBS and LMS, and perhaps some one or more other genetic syndromes, are both caused by one or more of these ciliary cellular problems now, as of June 2006, identified by BBS genes 1 thru 12. When the researchers complete finding all the remaining 'BBS' genes (forecast to be maybe 25 to 30 in total) in the next (hopefully) ten years, and then have the time and research resources to map which genetic mutations are seen in which persons at what ages in various population groups, and then can map that to environmental/diet/medical-history observable data for each person, the "settled science" on this disease will be very different than it was in the 120 years from 1866 to 1996. Hope this is helpful to you. N2e 19:02, 24 June 2006 (UTC)

Wow, thanks for that! :-D

Mendelian Inheritance in Man (OMIM) 209900 also has a paragraph discussing the relationship between the two disorders. --WS 21:11, 25 June 2006 (UTC)