Table 2 Genotypic summary of Chinese KS patients
From: Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
Case ID | Literature | Genes involve | Mutation | Preticted protein changes | Type of mutation | Inheritance | Exon | Pathogenic classification |
|---|---|---|---|---|---|---|---|---|
1 | This study | KMT2D | c.5845delC | p.Q1949Sfs*98 | Frameshift del | De novo | 27 | Pathogenic |
2 | KMT2D | c.16294C > T | p.R5432W | Missense | NA | 51 | Likely Pathogenic | |
3 | KDM6A | c.2668-2671del | p.N891Vfs*27 | Frameshift del | De novo | 18 | Pathogenic | |
4 | KMT2D | c.6595delT | p.Y2199Ifs*65 | Frameshift del | NA | 31 | Pathogenic | |
5 | KMT2D | c.16442delG | p.C5481Lfs*6 | Frameshift del | NA | 52 | Pathogenic | |
6 | KMT2D | c.3926delC | p.P1309Qfs*21 | Frameshift del | NA | 12 | Pathogenic | |
7 | KMT2D | c.12630delG | p.Q4210fs*5 | Frameshift del | De novo | 39 | Pathogenic | |
8 | [7] Liu S, et al. BMC Med Genet. 2015, 16:26. | KMT2D | c.12199C > T | p.P4067Sr | Missense | De novo | 39 | Likely Pathogenic |
c.16295G > A | p.R5432Q | Missense | De novo | 51 | Likely Pathogenic | |||
9 | KMT2D | c.4664C > T | p.S1555F | Missense | De novo | 17 | Likely Pathogenic | |
10 | KMT2D | c.8639 T > C | p.L2880P | Missense | De novo | 34 | Likely Pathogenic | |
11 | KMT2D | c.3095delT | p.L1032Rfs24X | Frameshift del | NA | 11 | Pathogenic | |
12 | KMT2D | c.96C > G | p.D32E | Missense | De novo | 2 | Likely Pathogenic | |
13 | KMT2D | c.4395dupC | p.K1466Qfs25X | Frameshift del | NA | 15 | Pathogenic | |
14 | KMT2D | c.11638C > Aa | p.L3880 M | Missense | NA | 39 | Uncertain significance | |
15 | KMT2D | c.4140 T > A | p.C1370X | Nonsense | NA | 14 | Pathogenic | |
c.11718-11723delGCAACA | Non-Frameshift indel | NA | 39 | Likely Pathogenic | ||||
16 | [8] Yang P, et al. Am J Med Genet A. 2016, 170 (6): 1613–21. | KDM6A | exon1-2del | Frameshift del | De novo | Pathogenic | ||
17 | [9] Wu BB, et al. Chin J Evid Based Pediatr. 2017, 12 (2):135–9. | KMT2D | c.12697C > T | p.Q4233X | Nonsense | De novo | 39 | Pathogenic |
c.12696C > T | p.Q4232H | Missense | De novo | 39 | Pathogenic | |||
18 | KMT2D | c.3495delC | p.P1165Lfs*47 | Frameshift del | De novo | 11 | Pathogenic | |
19 | KMT2D | c.10881delT | p.L3627Rfs*31 | Frameshift del | De novo | 39 | Pathogenic | |
20 | KMT2D | c.16498C > T | p.R5500W | Missense | NA | 53 | Likely Pathogenic | |
21 | KMT2D | c.12560G > A | p.G4187E | Missense | NA | 39 | Likely Pathogenic | |
22 | KMT2D | c.16273G > A | p.E5425K | Missense | NA | 51 | Likely Pathogenic | |
23 | [10] JUN LU, et al. MOLECULAR MEDICINE REPORTS. 2016, 14: 3641–3645. | KMT2D | c.4485C > A | p.Y1495S | Missense | De novo | 16 | Pathogenic |
24 | [11] Chengqi Xin, BMC Medical Genetics. 2018, 19:31 | KMT2D | c.5235delA | p.A1746Lfs*39 | Frameshift del | De novo | 22 | Pathogenic |
25 | KMT2D | c.7048G > A | p.Q2350* | Frameshift del | De novo | 31 | Pathogenic | |
26 | [12] Ju-Li Lin, et al. Clinical Genetics, 2015, 88 (3): 255–260. | KMT2D | c.12307C > T | p.Q4013X | Nonsense | De novo | 38 | Pathogenic |
27 | KMT2D | c.3754C > T | p.R1252X | Nonsense | De novo | 11 | Pathogenic | |
28 | KMT2D | c.16294C > T | p.R5432W | Nonsense | De novo | 51 | Likely Pathogenic | |
29 | KMT2D | c.5993A > G | p.Y1998C | Missense | De novo | 28 | Likely Pathogenic | |
30 | KMT2D | c.16273G > A | p. E5425K | Missense | Father | 51 | Likely Pathogenic | |
31 | KMT2D | c.16273G > A | p. E5425K | Missense | Father | 51 | Likely Pathogenic | |
32 | KMT2D | c.16273G > A | p. E5425K | Missense | Father | 51 | Likely Pathogenic | |
33 | KMT2D | c.8743C > T | p.R2915X | Nonsense | De novo | 34 | Pathogenic | |
34 | KMT2D | c.5269C > T | p.R1757X | Nonsense | De novo | 22 | Pathogenic | |
35 | KMT2D | c.16273G > A | p.E5425K | Missense | De novo | 51 | Likely Pathogenic | |
36 | KMT2D | c.7650-1delCT | p.P2550Rfs2604X | Frameshift del | De novo | 31 | Pathogenic | |
37 | KMT2D | c.16135C > T | p.Q5379X | Nonsense | De novo | 51 | Pathogenic | |
38 | KMT2D | c.15326G > T | p.C5109F | Missense | De novo | 48 | Pathogenic | |
39 | KMT2D | c.16498C > T | p.R5500W | Missense | De novo | 53 | Pathogenic | |
40 | [13] LI Jieling, ea. al. J Clin Pediatr. 2018, 1 (36): 53–56. | KMT2D | c.7130C > Ta | p.P2377L | Missense | Father | 31 | Uncertain significance |
41 | KMT2D | IVS9 + 2 T > G | Splice mutation | De novo | Pathogenic | |||
42 | [14] Wang Hongmei, et al. Chin J Pediatr. 2018, 56 (11): 846–849. | KMT2D | c.11770C > T | p.Q3924X | Nonsense | De novo | 39 | Pathogenic |
43 | KMT2D | c.13033A > T | p.K4345X | Nonsense | De novo | 39 | Pathogenic | |
44 | KMT2D | c.1763C > G | p.S588X | Nonsense | De novo | 10 | Pathogenic | |
45 | KMT2D | c.5848delT | p.S1950Pfs*97 | Frameshift | De novo | 27 | Pathogenic | |
46 | KMT2D | c.16294C > T | p.R5432W | Missense | De novo | 51 | Likely Pathogenic | |
47 | [15] Guo Z,et al. BMC Med. Genet. 2018, 12 03;19 (1). | KDM6A | c.335-1G > T | Splice site mutation | mother | Likely Pathogenic |