Congenital Insensitivity to Pain: A Case Report and Review of the Literature

Table 1

SCN9A mutations causing congenital indifference to pain.

SCN9A mutations	Reference
c.1376C>G, p.Ser459Ter	Cox et al., 2006 [4]
c.2298delT, pIle767Ter
c.2691G>A, p.Trp897Ter
c.828delGT	Nilsen et al., 2009 [9]
c.2575C>T
c.829C>T, p.Arg277Ter	Goldberg et al., 2007 [10]
c.984C>A, p.Tyr328Ter
c.2455C>T, p.Arg630X
c.3600delT, p.Phe1200LeufsX33
c.4462C>T, p.Arg1488X
c5067G>A, p.Trp1689X
c.2076_2077InsT, p.Glu693X
c.4366-7_10delGTTT, del 4 bp, splice junction mutation
c.3703_3713del, del 11 bp, pIle1235LeufsX2
c.4975A>T, p.Lys1450X
c.1126A>C, p.K376Q	Shorer et al., 2014 [14]
c.1124delG, p.G375AfsX5
c.984C>A, p.Y328X	Ahmad et al., 2007 [15]
c.2687G>A, p.R896Q	Cox et al., 2010 [16]
c.4108_4122delCGATGGAAAAACCTG, p.R1370-L1374 del
c.4474delA, p.I1493SfsX8
c.1567C>T, p.Arg523Ter	Kurban et al., 2010 [17]
c.2697G>A, p.Met899Ile	Yuan et al., 2011 [18]
c.2796A→C, p.Met932Leu
c.5155T>C; C1719R	Staud et al., 2011 [19]
c.3467+3delA, or IVS17+3 delA
c.1567C>T, p.Arg523Ter	Klein et al., 2013 [20]
IVS8-2A>G