Table 1 Rare variants in CHD4, CNOT3, and SETD5 identified in MMA patients

CHD4

c.3533C>T

p.Ala1178Val

23.9

0

0

De novo

MM182

CHD4

c.22C>T

p.Pro8Ser

23.1

0

0

Proband^a

MM117

CHD4

c.1481C>T

p.Thr494Met

24.9

0

1.22e⁻⁵

Inherited from unaffected mother

M102

CHD4

c.1686+1G>T

–

24.7

0

0

Proband^a

M136

CHD4

c.5221A>G

p.Ile1741Val

24.5

0

7.25e⁻⁶

Proband^a

M108

CHD4

c.5273A>G

p.Tyr1758Cys

26.5

1.60e⁻³

1.62e⁻⁵

Proband^a

M123

CHD4

c.5638C>T

p.Pro1880Ser

24.8

0

0

Absent in mother^b

M155

CNOT3

c.643C>T

p.Gln215*

39

0

0

De novo

MM165

CNOT3

c.1564C>A

p.Leu522Ile

17.9

0

0

De novo

MM150

CNOT3

c.910G>A

p.Gly304Ser

27.2

1.174e⁻³

4.76e⁻⁴

Inherited from unaffected father

MM078

CNOT3

c.910G>A

p.Gly304Ser

27.2

1.174e⁻³

4.76e⁻⁴

Absent in father^b

MM112

SETD5

c.1981delG

p.Glu661Lysfs*5

–

0

0

De novo

MM166

SETD5

c.1015G>T

p.Asp339Tyr

27.8

0

0

Proband^a

M257

SETD5

c.2299C>T

p.Arg767Cys

33

6.415e⁻⁵

7.67e⁻⁵

Proband^a

M011