Table 1. Summary of the reported mutations in 12 Korean patients with Kabuki syndrome.

Patients	Gene	Mutation type	Exon	Nucleotide change	Amino acid change
1	KTM2D	Missense	15	c.4271G>T	p.C1424F
2	KTM2D	Nonsense	32	c.8107G>T	p.E2703*
3	KTM2D	Small deletion	46	c.14404delG	p.A4802Qfs*6
4	KTM2D	Missense	39	c.13259G>A	p.R4420Q
5	KTM2D	Small deletion	34	c.9164delC	p.P3055Lfs*16
6	KTM2D	Nonsense	39	c.12592C>T	p.R4198*
7	KTM2D	Small insertion	26	c.5775_6insT	p.L1926Sfs*31
8	KTM2D	Small deletion	14	c.4135_6delAT	p.M1379Vfs*52
9	KTM2D	Nonsense	39	c.11515C>T	p.Q3839*
10	KTM2D	Nonsense	39	c.11833C>T	p.Q3945*
11	KTM2D	Small deletion	22	c.5256_5257delGA	p.K1753Afs*34
12	KDM6A	Splicing error	26	c.3876_3878delTAA+1delG	-

Data derived from Cheon CK, et al. J Hum Genet 2014;59:321-57) and Kim SJ, et al. J Pediatr 2013;56:355-838).