Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

BMC Medical Genetics

Table 2 KMT2D gene variants analysis

Patient	Mutation	Type of mutation	Predicted protein changes	Inheritance	Exon	PROVEAN prediction		SIFT prediction		Polyphen-2 prediction		Pathogenicity	Novelty
						Score	Prediction*	Score	Prediction**	Score	Prediction
Patient 1	c.12199C > T	Missense	p.Pro4067Ser	De novo	39	−1.663	Neutral	0	Damaging	0.085	Benign	Undetermined	Novel
	c.16295G > A	Missense	p.Arg5432Gln	De novo	51	−3.695	Deleterious	0	Damaging	1.000	Probably damaging	Confirmed	Kokitsu-Nakata et al
Patient 2	c.4664C > T	Missense	p.Ser1555Phe	De novo	17	−0.958	Neutral	0.682	Tolerated	0.976	Probably damaging	Undetermined	Novel
Patient 3	c.8639T > C	Missense	p.Leu2880Pro	De novo	34	−5.055	Deleterious	0	Damaging	1.000	Probably damaging	Confirmed	Novel
Patient 4	c.3095delT	Frameshift indel	p.Leu1032Argfs24X	N/A	11							Confirmed	Novel
Patient 5	c.96C > G	Missense	p.Asp32Glu	De novo	2	0.423	Neutral	0.106	Tolerated	0.001	Benign	Undetermined	Novel
Patient 6	c.4395dupC	Frameshift indel	p.Lys1466Glnfs25X	N/A	15							Confirmed	Novel
Patient 7	c.11638C > A	Missense	p.Leu3880Met	N/A	39	0.500	Neutral	0.008	Damaging	0.003	Benign	Undetermined	Novel
Patient 8	c.4140T > A	Nonsense	p.Cys1370X	N/A	14							Confirmed	Novel
	c.11718-11723delGCAACA	Non-frameshift indel	p3907-3909delQQ	N/A	39	−1.298	Neutral					Undetermined	Novel

ISSN: 1471-2350