Table 2.
Overview of genetic characteristics of Stickler syndrome patients.
| ID | Family | Gene Symbol | Exon/Intron | Nucleotide Change | Protein Change | Variant Type | ACMG Classification | References |
|---|---|---|---|---|---|---|---|---|
| 1 | A | COL2A1 | Ex42 | c.2862C>T | p.(Gly954=) | Sn | LPV | Richards et al. [9] |
| 2 | B | COL2A1 | Ex40 | c.2678dup | p.(Ala895Serfs*49) | F | PV | Hoornaert et al. [24] Barat-Houari et al. [25] Yoon et al. [15] |
| 3 | C | COL2A1 | IVS47 | c.3327+1G>C | p.(?) | S | LPV | Yoon et al. [15] |
| 4 | C | COL2A1 | IVS47 | c.3327+1G>C | p.(?) | S | LPV | Yoon et al. [15] |
| 5 | D | COL2A1 | Ex31 | c.2003del | p.(Pro668Leufs*120) | F | PV | Novel |
| 6 | D | COL2A1 | Ex31 | c.2003del | p.(Pro668Leufs*120) | F | PV | Novel |
| 7 | D | COL2A1 | Ex31 | c.2003del | p.(Pro668Leufs*120) | F | PV | Novel |
| 8 | E | COL2A1 | Ex51 | c.3867C>A | p.(Cys1289*) | N | PV | Novel |
| 9 | E | COL2A1 | Ex51 | c.3867C>A | p.(Cys1289*) | N | PV | Novel |
| 10 | F | COL2A1 | Ex52 | c.4044G>C | p.(Trp1348Cys) | M | VUS | Novel |
| 11 | G | COL11A1 | Ex49 | c.3703G>A | p.(Ala1235Thr) | M | VUS | Novel |
| 12 | G | COL11A1 | Ex49 | c.3703G>A | p.(Ala1235Thr) | M | VUS | Novel |
| 13 | H | COL11A1 | IVS15 | c.1630-2delA | p.(?) | S | LPV | Martin et al. [26] |
| 14 | H | COL11A1 | IVS15 | c.1630-2delA | p.(?) | S | LPV | Martin et al. [26] |
| 15 | I | COL2A1 | IVS40 | c.2680-3C>G | p.(?) | I | VUS | Novel |
| 16 | J | COL2A1 | Ex42 | c.2862C>T | p.(Gly954=) | Sn | LPV | Richards et al. [9] |
| 17 | K | COL2A1 | IVS45 | c.3165+1G>A | p.(?) | S | VUS | Novel |
| 18 | L | COL2A1 | IVS13 | c.870+1G>A | p.(?) | S | LPV | Richards et al. [9] |
| 19 | M | COL2A1 | Ex9 | c.625C>T | p.(Arg209*) | N | PV | Ahmad et al. [27] |
| 20 | N | COL2A1 | Ex51 | c.3598G>C | p.(Gly1200Arg) | M | LPV | Novel |
| 21 | O | COL2A1 | Ex48 | c.3394del | p.(His1132Thrfs*95) | F | LPV | Novel |
| 22 | P | COL2A1 | Ex28 | c.1844del | p.(Gly615Alafs*14) | F | LPV | Novel |
| 23 | Q | COL2A1 | Ex26 | c.1693C>T | p.(Arg565Cys) | M | LPV | Richards et al. [28], Sun et al. [29], Wang et al. [30], Zhou et al. [31] |
| 24 | Q | COL2A1 | Ex26 | c.1693C>T | p.(Arg565Cys) | M | LPV | Richards et al. [28], Sun et al. [29], Wang et al. [30], Zhou et al. [31] |
| 25 | Q | COL2A1 | Ex26 | c.1693C>T | p.(Arg565Cys) | M | LPV | Richards et al. [28], Sun et al. [29], Wang et al. [30], Zhou et al. [31] |
| 26 | Q | COL2A1 | Ex26 | c.1693C>T | p.(Arg565Cys) | M | LPV | Richards et al. [28], Sun et al. [29], Wang et al. [30], Zhou et al. [31] |
| 27 | Q | COL2A1 | Ex26 | c.1693C>T | p.(Arg565Cys) | M | LPV | Richards et al. [28], Sun et al. [29], Wang et al. [30], Zhou et al. [31] |
| 28 | R | COL2A1 | Ex44 | c.3106C>T | p.(Arg1036*) | N | PV | Zhou et al. [31], Richards et al. [32], Savasta et al. [33] |
| 29 | R | COL2A1 | Ex44 | c.3106C>T | p.(Arg1036*) | N | PV | Zhou et al. [31], Richards et al. [32], Savasta et al. [33] |
| 30 | R | COL2A1 | Ex44 | c.3106C>T | p.(Arg1036*) | N | PV | Zhou et al. [31], Richards et al. [32], Savasta et al. [33] |
| 31 | R | COL2A1 | Ex44 | c.3106C>T | p.(Arg1036*) | N | PV | Zhou et al. [31], Richards et al. [32], Savasta et al. [33] |
| 32 | S | COL11A1 | IVS51 | c.3816+2dup | p.(?) | S | VUS | Novel |
| 33 | T | COL2A1 | Ex23 | c.1493G>A | p.(Gly498Asp) | M | VUS | Novel |
| 34 | U | COL11A1 | Ex29 | c.2308_2316del | p.(Val770_Gly772del) | IFD | VUS | Novel |
| 35 | U | COL11A1 | Ex29 | c.2308_2316del | p.(Val770_Gly772del) | IFD | VUS | Novel |
| 36 | V | COL2A1 | Ex11 | c.737G>A | p.(Gly246Asp) | M | VUS | Lee et al. [34] |
| 37 | W | COL2A1 | Ex44 | c.3106C>T | p.(Arg1036*) | N | PV | Zhou et al. [31], Richards et al. [32], Savasta et al. [33] |
M = missense; Sn = synonymous; S = splicing (canonical splicing site); N = nonsense; F = frame shift; IFD = in-frame deletion; I = intron (non-canonical splice site).