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Table 2 Genotypic summary of Chinese KS patients

From: Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

Case IDLiteratureGenes involveMutationPreticted protein changesType of mutationInheritanceExonPathogenic classification
1This studyKMT2Dc.5845delCp.Q1949Sfs*98Frameshift delDe novo27Pathogenic
2KMT2Dc.16294C > Tp.R5432WMissenseNA51Likely Pathogenic
3KDM6Ac.2668-2671delp.N891Vfs*27Frameshift delDe novo18Pathogenic
4KMT2Dc.6595delTp.Y2199Ifs*65Frameshift delNA31Pathogenic
5KMT2Dc.16442delGp.C5481Lfs*6Frameshift delNA52Pathogenic
6KMT2Dc.3926delCp.P1309Qfs*21Frameshift delNA12Pathogenic
7KMT2Dc.12630delGp.Q4210fs*5Frameshift delDe novo39Pathogenic
8[7] Liu S, et al. BMC Med Genet. 2015, 16:26.KMT2Dc.12199C > Tp.P4067SrMissenseDe novo39Likely Pathogenic
c.16295G > Ap.R5432QMissenseDe novo51Likely Pathogenic
9KMT2Dc.4664C > Tp.S1555FMissenseDe novo17Likely Pathogenic
10KMT2Dc.8639 T > Cp.L2880PMissenseDe novo34Likely Pathogenic
11KMT2Dc.3095delTp.L1032Rfs24XFrameshift delNA11Pathogenic
12KMT2Dc.96C > Gp.D32EMissenseDe novo2Likely Pathogenic
13KMT2Dc.4395dupCp.K1466Qfs25XFrameshift delNA15Pathogenic
14KMT2Dc.11638C > Aap.L3880 MMissenseNA39Uncertain significance
15KMT2Dc.4140 T > Ap.C1370XNonsenseNA14Pathogenic
c.11718-11723delGCAACA Non-Frameshift indelNA39Likely Pathogenic
16[8] Yang P, et al. Am J Med Genet A. 2016, 170 (6): 1613–21.KDM6Aexon1-2del Frameshift delDe novo Pathogenic
17[9] Wu BB, et al. Chin J Evid Based Pediatr. 2017, 12 (2):135–9.KMT2Dc.12697C > Tp.Q4233XNonsenseDe novo39Pathogenic
c.12696C > Tp.Q4232HMissenseDe novo39Pathogenic
18KMT2Dc.3495delCp.P1165Lfs*47Frameshift delDe novo11Pathogenic
19KMT2Dc.10881delTp.L3627Rfs*31Frameshift delDe novo39Pathogenic
20KMT2Dc.16498C > Tp.R5500WMissenseNA53Likely Pathogenic
21KMT2Dc.12560G > Ap.G4187EMissenseNA39Likely Pathogenic
22KMT2Dc.16273G > Ap.E5425KMissenseNA51Likely Pathogenic
23[10] JUN LU, et al. MOLECULAR MEDICINE REPORTS. 2016, 14: 3641–3645.KMT2Dc.4485C > Ap.Y1495SMissenseDe novo16Pathogenic
24[11] Chengqi Xin, BMC Medical Genetics. 2018, 19:31KMT2Dc.5235delAp.A1746Lfs*39Frameshift delDe novo22Pathogenic
25KMT2Dc.7048G > Ap.Q2350*Frameshift delDe novo31Pathogenic
26[12] Ju-Li Lin, et al. Clinical Genetics, 2015, 88 (3): 255–260.KMT2Dc.12307C > Tp.Q4013XNonsenseDe novo38Pathogenic
27KMT2Dc.3754C > Tp.R1252XNonsenseDe novo11Pathogenic
28KMT2Dc.16294C > Tp.R5432WNonsenseDe novo51Likely Pathogenic
29KMT2Dc.5993A > Gp.Y1998CMissenseDe novo28Likely
Pathogenic
30KMT2Dc.16273G > Ap. E5425KMissenseFather51Likely Pathogenic
31KMT2Dc.16273G > Ap. E5425KMissenseFather51Likely Pathogenic
32KMT2Dc.16273G > Ap. E5425KMissenseFather51Likely Pathogenic
33KMT2Dc.8743C > Tp.R2915XNonsenseDe novo34Pathogenic
34KMT2Dc.5269C > Tp.R1757XNonsenseDe novo22Pathogenic
35KMT2Dc.16273G > Ap.E5425KMissenseDe novo51Likely
Pathogenic
36KMT2Dc.7650-1delCTp.P2550Rfs2604XFrameshift delDe novo31Pathogenic
37KMT2Dc.16135C > Tp.Q5379XNonsenseDe novo51Pathogenic
38KMT2Dc.15326G > Tp.C5109FMissenseDe novo48Pathogenic
39KMT2Dc.16498C > Tp.R5500WMissenseDe novo53Pathogenic
40[13] LI Jieling, ea. al. J Clin Pediatr. 2018, 1 (36): 53–56.KMT2Dc.7130C > Tap.P2377LMissenseFather31Uncertain significance
41KMT2DIVS9 + 2 T > G Splice mutationDe novo Pathogenic
42[14] Wang Hongmei, et al. Chin J Pediatr. 2018, 56 (11): 846–849.KMT2Dc.11770C > Tp.Q3924XNonsenseDe novo39Pathogenic
43KMT2Dc.13033A > Tp.K4345XNonsenseDe novo39Pathogenic
44KMT2Dc.1763C > Gp.S588XNonsenseDe novo10Pathogenic
45KMT2Dc.5848delTp.S1950Pfs*97FrameshiftDe novo27Pathogenic
46KMT2Dc.16294C > Tp.R5432WMissenseDe novo51Likely
Pathogenic
47[15] Guo Z,et al. BMC Med. Genet. 2018, 12 03;19 (1).KDM6Ac.335-1G > T Splice site mutationmother Likely Pathogenic
  1. aNo sufficient evidence supporting it’s pathogenicity *Denotes a frameshift change as the first affected amino acid