Table 1.
Genetic variant test results
| Type of pathogenic variant (mutation) | No. of patients (%) (n = 63) |
Hearing | Base or amino acid changes (N: number of patients; n: number of variants) |
|---|---|---|---|
| Missense | Replacement of glycine 25 (39.68%) |
Normal | (N = 17; n = 17) c.3080G > T*(p.Gly1027Val);c.2723G > A*(p.Gly908Glu);c.395G > A(p.Gly132Glu);c.3383G > A(p.Gly1128Asp);c.892G > C(p.Gly298Arg);c.3508G > A*(p.Gly1170Ser);c.2714G > A*(p.Gly905Asp);c.2858G > T(p.Gly953Val);c.1175G > A(p.Gly325Arg);c.3418G > C(p.Gly1140Arg);c.1121G > T(p.Gly374Val);c.3319G > A*(p.Gly1107Arg);c.2287G > A*(p.Gly763Arg);c.3446G > T(p.Gly1149Val);c.3704G > C(p.Gly1235Ala);c.1861G > T*(p.Gly621Cys);c.2509G > A*(p.Gly837Ser) |
| Abnormal | Mild(N = 2; n = 2): c.2605G > A*(p.Gly869Arg);c.1410G > T(p.Gly403Val) |
||
| Moderate(N = 6; n = 5): c.4787G > A(p.Gly1596Asp);c.3704G > A(p.Gly1235Asp);c.1940G > T(p.Gly647Val);c.2678G > T*(p.Gly893Val);c.3170G > A(p.Gly1057Glu) | |||
| Replacement of non-glycine 7 (11.11%) |
Normal | (N = 5; n = 4): c.4688G > A(p.Arg1563Gln);c.3713G > A(p.Ala1238Thr);c.4862 T > C(p.Leu1621Ser);c.4427G > T(p.Cys1476Phe) |
|
| Abnormal | Moderate(N = 2, n = 2): c.4186C > T(p.Pro1396Ser);c.1984G > A(p.Ser992Asn) |
||
| Rearrangement | 9 (14.29%) | Normal | (N = 2; n = 2): Exon25del* c.1484-1501delAACCTGGTTTGCCAGGTC(p.Gln495Glyfs*6) |
| Abnormal | Mild(N = 2; n = 2): Exon4-37del; Exon45del |
||
| Moderate (N = 5; n = 4): c.3816-3823delAGGTCTCC(p.Gly1273Trpfs*6);c.1106-1110delAA(p.Lys370Argfs*40); E42Del;COL4A5E1 + E2-COL4A6E1 + E2 Del; Exon48-50Del | |||
| Splice | 7 (11.11%) | Normal | (N = 1; n = 1): c.456 + 2 T > C |
| Abnormal | Moderate(N = 5; n = 5): c.(781-7 T > A); c.2042-2A > G; c.IVS24 + 1G > A; c.4995-2A > G*; c.2245-2A > G* |
||
| Severe(N = 1; n = 1): c.937 + 5G > A | |||
| Nonsense | 5 (7.94%) | Normal | (N = 1; n = 1): c.1117C > T*(p.Arg373*) |
| Abnormal | Moderate(N = 3; n = 3): c.3850A > T(p.Lys1284*);c.5038C > T*(p.Arg1680*);c.107C > G*(p.Ser36*) |
||
| Severe(N = 1; n = 1): c.4078G > T(p.G1360*) | |||
| Frameshift | 10 (15.87%) | Normal | (N = 1; n = 1): c.2842DelC(p.Leu948Phefs*48) |
| Abnormal | Mild(N = 1; n = 1): c.1486-1491insG(p.Pro446*) |
||
| Moderate(N = 8; n = 7): c.3745delG*(p.Gly1249*);c.2471_2473insA(p.Gly825Argfs*30);c.2566_2567delC(p.Pro856Glnfs*18);c.660_662delA(p.Asn221Ilefs*33);c.2080delA(p.Ile694Tryfs*42);c.4782delG(p.Trp1549*);c.1269delA(p.Asp425Tyrfs*49); |
Note: Gene variants marked with an asterisk (*) indicate 17 gene variants that have already been reported for their pathogenicity
The accession number for the reference isoform of the COL4A5 gene is NM_033380.2
The mutation that the upper right-hand corner is marked by“*“indicates that the gene mutation has been reported