Loss-of-function folliculin mutations have also been described in pedigrees with familial spontaneous pneumothorax.
Litonjua Augusto A, Klanderman Barbara J, Cho Michael H, Sparrow David, SilvermanEdwin K, Raby Benjamin A 2008, 'Folliculin mutations are not associated with severe COPD', BMC Medical Geneticshttp://www.biomedcentral.com/1471-2350/9/120. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Several distinct mutations in the folliculin gene resulting in a truncated protein have been described.
Habib U Rehman 2012, 'Birt-Hogg-Dubé Syndrome: Report of a New Mutation', Canadian Respiratory Journalhttp://dx.doi.org/10.1155/2012/734985. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)