4.4 Deletion Mutations « Birt-Hogg-Dubé Syndrome

4.4 Deletion Mutations

Nucleotide deletions are the second most frequently reported type of FLCN mutation, causing a frameshift. No deletion mutants have been reported in exons 1 to 3.

Exon	DNA Change	Remarks	Reference
4	c.3delG	Frameshift	Bessis et al., 2006. Br J Dematol 155:1067-9.
4	c.59delT (reported 3 times)	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
4	c.147delA	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
4	c.235_238del	Frameshift	Painter et al., 2005. Am J Hum Genet 76:522-527.
5	c.252delC	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.
5	c.296delA	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
5	c.397-1del10	Splice site	Gunji et al., 2007. J Med Genet 44:588-593.
6	c.404delC	Frameshift	Gunji et al., 2007. J Med Genet 44:588-593.
6	c.420delC	Frameshift	Leter et al., 2007. J Invest Dermatol 128:45-49.
6	c.584delG (reported 2 times)	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
7	c.639delT	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.
7	c.671_672del	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.
9	c.890_893del	Frameshift	Woodward et al., 2008. Clin Cancer Res14:5925-30.
9	c.1014delG	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.
9	c.1021delC	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.
11	c.1252delC	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
11	c.1285delC (reported 14 times)	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
11	c.1301-2del11	Splice site	Leter et al., 2007. J Invest Dermatol 128:45-49.
12	c.1305delT	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.
12	c.1379_1380del (reported 2 times)	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
12	c.1408_1418del	Frameshift	van Steensel et al., 2007. J Invest Dermatol 127:588-93.
13	c.1528_1530del	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
13	c.1533_1536del	Nonsense	Gunji et al., 2007. J Med Genet 44:588-593.
14	c.1557delT	Frameshift	Kim et al., 2008 J Lorean Med Sci 23:332-5

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