The literature database has been updated with two papers:
Liu et al. report the case of a 44 year old Chinese woman who presented with asymptomatic lung cysts found during a routine physical examination. The patient also had a family history of spontaneous pneumothorax, and her father and two siblings were found to also have lung cysts. Exome sequencing identified a novel nonsense mutation in the FLCN gene, and Sanger sequencing confirmed that all four affected family members carried the mutation. None showed skin or renal symptoms of BHD. Cascade testing of the extended family identified one further family member – the proband’s 11 year-old nephew – who carried the mutation but was currently asymptomatic.
Zelger et al. review the clinical presentation of cutaneous adnexal tumours, including those found as part of a syndrome, such as Birt-Hogg-Dubé syndrome.
To find out more, the latest version of the database is available to download here.