Table 2 Characterization of Fifteen Related Studies on SDHB Mutations in PPGL Patients
Reference | Year | Age | Sex | Exon | cDNA | Protein | Type | PGL/PCC | Location | Malignant disease |
|---|---|---|---|---|---|---|---|---|---|---|
[13] | 2006 | 32 | F | 7 | c.689G > A | p.R230H | Missense | PGL | Para-aortic abdominal | No |
17 | M | 7 | c.757delT | p.C253Vfs257X | Frameshift | PGL | Middle mediastinum | Yes | ||
[14] | 2007 | 22 | F | 7 | c.640C > T | p.Q214X | Nonsense | PCCa | Left adrenal gland | No |
[15] | 2009 | 15 | F | 2 | c.136C > T | p.R46X | Nonsense | PGLa | Postcaval abdominal | No |
39 | F | 3 | c.268C > T | p.R90X | Nonsense | PGL | Para-aortic abdominal | Yes | ||
22 | F | 7 | c.725G > A | p.R242H | Missense | PCC | Right adrenal gland | No | ||
[16] | 2010 | 53 | F | 3 | c.269G > A | p.R90E | Missense | PGL | HN/RCBT | No |
36 | F | 6 | c.597C > G | p.Y199X | Nonsense | PGL | HN/RCBT | No | ||
43 | F | 7 | c.709C > T | p.P237S | Missense | PGL | HN/RCBT | No | ||
31 | F | 2 | c.200 + 1G > C | p.? | Splice site | PGL | HN/RGJT | No | ||
29 | F | 1 | c.20-22delinsC | p.L7PrfsX55 | Frameshift | PGL | HN/RGJT | Yes | ||
31 | F | 7 | c.725G > A | p.R242H | Missense | PGL | HN/RGJT | No | ||
37 | F | 7 | c.725G > A | p.R242H | Missense | PGL | HN/RGTT | No | ||
33 | M | 2 | c.79C > A | p.R27X | Nonsense | PGL | HN/LCBT | No | ||
38 | F | 6 | c.597C > G | p.Y199X | Nonsense | PGL | HN/RCBT | No | ||
30 | F | 2 | c.137G > A | p.R46Q | Missense | PGL | HN/LCBT | No | ||
[17] | 2010 | NA | NA | 6 | c.591del C | p.S198Afs219X | Frameshift | NA | NA | NA |
NA | NA | 7 | c.688C > T | p.R230C | Missense | NA | NA | NA | ||
[18] | 2011 | NA | NA | 2 | c.136C > T | p.R46X | Nonsense | NA | NA | NA |
[19] | 2013 | 58 | M | 6 | c.595C > A | p.S195R | Missense | PGL | HN | No |
30 | F | 1 | c.18C > A | p.A6A | Synonymous | PGL | HN | Yes | ||
17 | M | 1 | c.18C > A | p.A6A | Synonymous | PGL | HN | Yes | ||
47 | F | 6 | c.595C > A | p.S195R | Missense | PGL | HN | No | ||
29 | F | 1 | c.18C > A | p.A6A | Synonymous | PGL | HN | Yes | ||
37 | M | 1 | c.18C > A | p.A6A | Synonymous | PGL | HN | No | ||
[20] | 2014 | 30 | M | 4 | c.380 T > G | p.I127S | Missense | PGLb | Abdominal→HN | No |
[21] | 2015 | 30 | NA | 2 | c.112delC | p.R38Vfs77X | Frameshift | PGL | Bladder | Yes |
[22] | 2015 | 54 | M | 7 | c.647A > G | p.Y216C | Missense | PGL | HN | No |
38 | M | – | Del exon 1,2,3,7,8 | – | Large deletion | PGL | HN | Yes | ||
[23] | 2018 | 14 | M | 4 | c.343C > T | p.R115X | Nonsense | PGL | Postcaval abdominal | No |
32 | M | 5 | c.541-542A > G | IVS5-2A > G | Splice site | PGL | Para-aortic abdominal | No | ||
[24] | 2018 | 46 | M | 2 | c.136C > T | p.R46X | Nonsense | PCC | Right adrenal gland | Yes |
[25] | 2018 | 12 | F | 2 | c.136C > T | p.R46X | Nonsense | PGL | Upper left mediastinum | No |
[26] | 2019 | 16 | F | 4 | c.423 + 1G > T | p.? | Splice site | PGL | Retroperitoneal | No |
Current case | 2019 | 23 | F | 6 | c.563 T > C | p.L188P | Missense | PGL | Retroperitoneal | No |