ABSTRACT
Objective To study the mutation of FLCN gene in Chinese patients with sporadic and familial primary spontaneous pneumothorax. Methods A complete genetic analysis of FLCN by use of SSCP-PCR was performed in 102 unrelated Chinese patients with isolated PSP. Results 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 _1631 del 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. Conclusion 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.