BHD Literature Database Updated

The literature data base has been updated with two papers:

Pemberton et al. show that a naturally occurring FNIP2 mutation in Weimaraner dogs causes a recessive tremor phenotype, which starts at 12-14 days after birth and typically abates around 3-4 months of age. A second breed of dog, the Chow Chow, is also prone to a similar, although more severe and persistant, recessive tremor phenotype. Although direct sequencing was not performed, cross-breeding of a Chow Chow and a Weimaraner produced pups with a tremor phenotype, suggesting that a FNIP2 mutation also causes the tremor phenotype seen in Chow Chows. In both breeds, myelination of the spinal cord is incomplete, with the dorsal spino-cerebellar tract being the most severely affected. Myelination was also significantly reduced in the brains of Weimaraner pups compared with tremors than control dogs. The authors found that Sox10 – a known determinant of oligodendrocyte differentiation – activates FNIP2 expression in rat oligodendrocytes. Together, these data suggest that FNIP2 is required for oligodendrocyte function and myelination of the central nervous system.

Cayetano et al. describe the case of a 69 year old man with Birt-Hogg-Dubé syndrome, who presented in clinic with atypical symptoms. The patient was first diagnosed with BHD by participating in a study at the NIH (Schmidt et al., 2005) and was referred to the pulmonary clinic due to an abnormal chest scan. He has a medical history of diabetes mellitus, hypetension, paroxysmal atrial fibrillation, complete heart block requiring a pacemaker, prostate cancer and pulmonary embolism, and systemic vasculitis; and a family history of lung disease and heart disease. It is thought that this patient’s symptoms are caused by the co-incidence of BHD and a separate disease, most likely a vasculitis. A multidisciplinary approach has been adopted to ensure the best possible care for this patient. This paper is available to download from the BHD Articles Library: Clinical Research.

To find out more, download the latest version of the database here.

Leave a Reply