Table 2.

Clinical characteristics of individuals with DCM carrying MYPN mutations

ID	Variants	Age, gender	Age at onset	Clinical diagnosis	Family history	NYHA	%FS	%EF	Comments	PolyPhen-2	SIFT	PANTHER
H558307 Caucasian	c.59A>G Y20C	58 years, male	52 years	DCM, AF	No	I	14		Holter-salvo VT 7 bts	Damaging: 0.998	0.15	Deleterious: 0.5
MC31379 Caucasian	c.637A>G p.I213V + c.2546G>A p.A882T	35 years, female	6 weeks	DCM	Yes, sibling of 31380 (+) MYH7 c.2447T>G, p.W816G	I	25	47	Treatment: lesinopril and metoprolol	Benign: 0.004	0.5	Non
										Benign: 0.025	0.39	Non
JC31380 Caucasian	c.1016A>T p.Y339F	38 years, female	9 years	DCM	Yes, sibling of MC31379 (+) MYH7 c.2447T>G, p.W816G	I	—	44	Treatment: metoprolol	Damaging: 0.999	0.14	Deleterious: −3.8114
KA22974 Caucasian	c.1933A>G p.A611T	10 years, male	At birth	DCM, LVNC	Yes	I	28	46	Hypertrophic LV	Benign: 0	0.54	Non
16017 Caucasian	c.2546G>Ap.A882T	27 years, female	11 years	DCM	Yes	III	21		Mother had heart transplant	Benign: 0.025	0.39	Non
08V3294 Caucasian	c.2862C>A p.F954L	17 years, female	13 years	DCM	Yes	III	9	15		Damaging: 0.962	0.65	Deleterious: −3.19

Seven variants were found in patients with DCM. Variant p.Y20C was associated with DCM and HCM phenotypes in humans. Siblings MC31379 and JC31380 were carriers of missense variant in MYH7. Patient MC31379 had compound heterozygote variants in the MYPN gene. AF, atrial fibrillation; LVNC, left ventricular non-compaction; LNSVT, non-sustained ventricular tachycardia; NYHA, New York Heart Association; %FS, percent fractional shortening; %EF, percent ejection fraction; Non, non-deleterious.