Table 1.

KMT2E mutational findings in the study cohort

Individual	Variant	Translation impact	Variant type	Inheritance	ACMG
1	c.2051_2052dup	p.(Glu685*)	Nonsense	De novo	P
2	c.2107G>T	p.(Glu703*)	Nonsense	De novo	P
3	c.3034C>T	p.(Gln1012*)	Nonsense	De novo	P
4	c.4279C>T	p.(Gln1427*)	Nonsense†	De novo	LP
5	c.65del	p.(Gly22Valfs*7)	Frameshift	n/a*	LP
6	c.1099_1103dup	p.(Glu369Serfs*25)	Frameshift	Paternal	LP
7	c.1646_1650del	p.(Ile549Argfs*6)	Frameshift	De novo	P
8	c.2164_2167del	p.(Lsy722Valfs*17)	Frameshift	De novo	P
9	c.2714dup	p.(Met906Tyrfs*15)	Frameshift	De novo	P
10	c.4829dup	p.(Leu1610Phefs*259)	Frameshift†	De novo	LP
11	c.5054dup	p.(Pro1686Serfs*183)	Frameshift†	De novo	LP
12	c.183_186+2del	p.?	Splice	De novo	LP
13	c.264A>G	p.?	Splice	De novo	LP
14	c.768+1G>A	p.?	Splice	Paternal	LP
15	c.768+1G>A	p.?	Splice	Paternal	LP
16	c.2848-2A>C	p.?	Splice	n/a*	LP
17	arr(hg19)7q22.3 (104,696,686–105,407,628) x1	p.?	Gross deletion	De novo	P
18	arr(hg19)7q22.3 (104,730,300–104,791,108) x1	p.?	Gross deletion	De novo	P

^*The mother was tested negative, the father not available for testing.

^†Variant predicted to escape NMD.

ACMG, American College of Medical Genetics and Genomics classification; LP, likely pathogenic; NMD, nonsense-mediated decay; P, pathogenic.