Table 3.

Reported mutations and their localizations in FLCN of familial spontaneous pneumothorax patients

Gene	Mutations	Exon	Mutation type	Family phenotype	References
FLCN	c.1429C>T	12	Nonsense mutation	PSP	(Graham et al., 2005)
FLCN	c.943G>T	9	Nonsense mutation	PSP	(Graham et al., 2005)
FLCN	c.733delTCGG	4	Frameshift	PSP	Painter, Tapanainen, Somer, Tukiainen, & Aittomäki, 2005)
FLCN	c. 510C>G	6	Nonsense mutation	PSP	(Zhu, Shen, Zhu, & Tian, 2017)
FLCN	c.779G>A	7	Nonsense mutation	PSP	(Fröhlich et al., 2008)
FLCN	c.394G>A	5	Missense	PSP	(Fröhlich et al., 2008)
FLCN	c.924_926del	6	Inframe deletion	PSP	(Ren et al., 2008)
FLCN	c.1611_1631del	10	Frameshift	PSP	Ren et al., 2008)
FLCN	c.1740C>T	11	Missense	PSP	(Ren et al., 2008)
FLCN	c.1733insC	11	Frameshift	PSP	(Ren et al., 2008)
FLCN	c.1285delC	11	Frameshift	PSP	(Ray et al., 2015)
FLCN	nt1988 del GATG	13	Frameshift	PSP	(Gunji et al., 2007)
FLCN	nt1733 ins C	11	Frameshift	PSP	(Gunji et al., 2007)
FLCN	nt857 del C	6	Frameshift	PSP	(Gunji et al., 2007)
FLCN	nt852 ‐1 del gtccctccag	intron 5	Inframe deletion	PSP	(Gunji et al., 2007)
FLCN	nt1795 ins CCACCCT	12	Frameshift	PSP	(Gunji et al., 2007)
FLCN	c.1537 del‐C	10	Deletion mutation	PSP	(Sundaram, Tasker, & Morrell, 2009)
FLCN	c. 1273C>T	11	Nonsense mutation	PSP	*Our mutation

Abbreviation: FLCN, folliculin.