Punctate Palmoplantar Keratoderma

Scientists in Dundee Discover the Gene which Causes Palmo-Plantar Keratoderma

I saw this story on the BBC News website this morning. Another key discovery from Irwin McLean's team in the epithelial genetics lab in Dundee as they have discovered the gene which causes punctate palmoplantar keratoderma. Similar to Pachyonychia Congenita, it is a disorder which causes kyperkeratosis, most commonly of the palms and soles. This can become very painful and debilitating if the lesions on the soles in particular are diffuse. The condition one of a group of disorders classified as 'palmoplantar keratodermas'. It is inherited in an autosomal dominant manner and it is estimated that approximately one in 15,000 people in the UK are affected by the condition. The gene was primarily discovered using whole-genome sequencing, much less time consuming than the 'old fashioned way' of testing for inherited mutations using repeated PCR (polymerase chain-reactions) in the lab. Whole genome sequencing is becoming faster, more accessible and cheaper at a rapid rate and is likely to have a major impact on medicine in the coming 50 years.

The article can be found at: Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. E. Pohler et al. Nature Genetics (2012) doi:10.1038/ng.2444 Published online 14/10/12.