Month: July 2011

A recent paper by Tobino et al. (2011) investigated the differentiation between two cystic lung diseases: BHD syndrome and lymphangioleiomyomatosis (LAM). LAM is a rare lung disease, mainly affecting women, in which multiple cysts develop in the lungs, often leading to pneumothorax. As with BHD syndrome, cysts and tumours can also occur in the kidneys. … Read more

In an earlier blog post, Vicki discussed a paper by Dalgliesh et al. (2010), which describes the identification of mutations in a variety of histone modifying genes in clear cell renal cell carcinoma (ccRCC). One of the genes identified codes for a tri-methylation-specific histone H3 lysine 4 (H3K4Me3) demethylase called JARID1C. Recent work by Niu et al. … Read more

As the BHD community is spread all over the globe, strengthening connections and developing more ways of meeting others is important. At the Third BHD Symposium, people at the Patient and Families session proposed the idea of privately messaging BHDSyndrome.org Forum users. Now the private messaging system is live and running. How does it work? Anyone who would like to … Read more

Fumarate hydratase (FH) is a mitochondrial enzyme which is involved in aerobic cellular respiration. As discussed in a previous post, germline mutations of FH can lead to Hereditary Leiomyomatosis Renal Cell Carcinoma (HLRCC), an autosomal dominant disorder which shares some phenotypic similarities with BHD syndrome. HLRCC is associated with the development of type 2 papillary … Read more

A recent paper by Pichert et al. (2011) screened 4805 patients for genetic imbalance in cancer predisposition genes. The patients had been referred to UK clinics for developmental delay, behavioural abnormalities and birth defects. Array CGH was used to detect copy number variations in 47 cancer predisposition genes, including FLCN. It was found that 29 … Read more