Table 2.

Summary of mutations in the KMT2D and KDM6A genes identified in the study.

Patient	1	2	3	4	5	6	7
Gene	KMT2D	KMT2D	KMT2D	KMT2D	KMT2D	KMT2D	KDM6A
Exon	51	7	22	11	29	39	3
Inheritance	AD	AD	AD	AD	AD	AD	X-link
Chromosomal location	chr12: 49416417	chr12: 49447088-9	chr12: 49437653	chr12: 49443672	chr12: 49435767	chr12: 49426664	chrX: 44820628-35
Mutation	c.16294C>Ta	c.855_856delCT	c.5317C>T	c.3699delG	c.6115delT	c.11824C>T	c.327_333delTCCAAAA
Amino acid changes	p.R5432W	p.S286X	p.Q1773X	p.G1235VfsX95	p.S2039QfsX8	p.Q3942X	p.Y109X
Type of mutation	Missense	Frameshift deletion	Stop gain	Frameshift deletion	Frameshift deletion	Stop gain	Frameshift deletion
Novel	No	Yes	Yes	Yes	Yes	Yes	Yes
Paternal age (Y)	46	29	38	35	34	24	31
Maternal age (Y)	29	34	34	32	20	23	29
De novo	Yes	NA	Yes	Yes	NA	Yes	Yes

KMT2D (NM_003482.3), KDM6A (NM_021140.3); NA, not applicable, ^aThis variant has been previously identified ¹⁵, ¹⁶.