Novel Mutations

I had originally intended to blog about a novel entire exon 14 deletion in a female BHD patient that has been identified by Sempau et al, (Actas Dermosifiliogr. 2010 Sep;101(7):637-40).

However, since the article is only available in Spanish, I thought it would be prudent to wait for the English translation to be issued (which should be due in a few days according to the official website) before I analyse the matter further.

What I do think is important and springs from this paper is how vitally important it is for the BHD community to share data like this. Significantly, the Folliculin Sequence Variation Database has been established, and is actively curated so that this kind of data can be consolidated in one place, and is freely available as a resource to everyone. I would impress upon all the clinical geneticists out there carrying out BHD research to bear this in mind and submit published findings.

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