Both these authors contributed equally to this work and should both be considered first authors.
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax
Article first published online: 25 MAY 2008
© 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard
Volume 74, Issue 2, pages 178–183, August 2008
How to Cite
Ren, H.-Z., Zhu, C.-C., Yang, C., Chen, S.-L., Xie, J., Hou, Y.-Y., Xu, Z.-F., Wang, D.-J., Mu, D.-K., Ma, D.-H., Wang, Y., Ye, M.-H., Ye, Z.-R., Chen, B.-F., Wang, C.-G., Lin, J., Qiao, D. and Yi, L. (2008), Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clinical Genetics, 74: 178–183. doi: 10.1111/j.1399-0004.2008.01030.x
- Issue published online: 9 JUL 2008
- Article first published online: 25 MAY 2008
- Received 27 December 2007, revised and accepted for publication 7 April 2008
- FLCN gene;
- primary spontaneous pneumothorax
Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt–Hogg–Dubé syndrome caused by folliculin gene (FLCN) mutation, which is also found in isolated familial PSP cases. A complete genetic analysis of FLCN was performed in 102 unrelated Chinese patients with isolated PSP and 21 of their family members. Three novel mutations (c.924_926del, c.1611_1631del and c.1740C>T) and a previously reported mutation (c.1733insC) were identified in five familial and five sporadic PSP patients. Of the 21 family members of patients with PSP including 3 previous considered as sporadic, 4 (19%) had history of at least one episode of PSP and 9 (43%) were FLCN mutant carriers without PSP. Seven of the nine (78%) mutant carriers had pulmonary cysts detected by high-resolution computed tomography (HRCT). Although c.924_926del and c.1611_1631del were found in eight patients from the same geographic district, haplotype analysis demonstrated that they did not share the same affected haplotype, thus excluding common ancestry. This study first demonstrates that FLCN mutation contributes to not only familial but also ‘apparently sporadic’ patients with isolated PSP. It suggests that mutation analysis and HRCT scan may be recommended for first-degree family members of PSP patients with FLCN mutations, irrespective of their family history status of PSP.