Back in October, Duncan brought to your attention a paper by Sempau et al. in which a novel entire exon 14 deletion was identified in a BHD patient. At the time, the article was only available in Spanish, but now the English translation has been released, I thought I would expand on his post a bit further.
Molecular genetic studies of a female BHD patient with a family history of skin lesions, spontaneous pneumothoraces and renal tumours, revealed a deletion of exon 14 in the FLCN gene. At the time, this mutation had not previously been reported in the literature. Interestingly, the mutation has since been identified in a second BHD patient during a Japanese study (Kunogi et al, 2010), highlighting the rapidly expanding knowledge in this field.
Sempau et al. believe the exon 14 deletion is interesting as the patient also suffered cutaneous melanoma. There are 4 other cases of melanomas associated with BHD, perhaps linking FLCN with a wider tumour suppressor function.
The possible association of FLCN with cutaneous melanoma highlights the importance of sharing BHD data. The Folliculin Sequence Variation Database is available to the public and consolidates all identified FLCN mutations. The database currently contains 132 mutations which occur in all coding exons (4-14). Combining such data allows trends to be easily identified, which enables us to further our understanding of the causes of BHD syndrome.
- Kunogi et al. 2010. Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet; 47(4): 281–287.
- Sempau et al. 2010. New Mutation in the Birt Hogg Dubé Gene. Actas Dermosifiliogr.;101(7):637–640.
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.