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Table 1 Basic clinical and genetic characteristics of all 60 EOD patients

From: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

ID

Diagnosis

AAO (y)

Sex

FH

APOE

Gene

Variant

Position

Transcript

CADD

ClinVar

Significance for disease

EOD-1

AD

54

f

3

E2/E3

PSEN1

c.356C>T; p.T119I

chr14:73640291-73640291

NM_000021.3

24.4

LP

Relevant for diagnosis

EOD-2

bvFTD

44

f

1

E4/E3

MAPT

c.1907C>T; p.P636L

chr17:44087755-44087755

NM_001123066.3

34.0

P

Relevant for diagnosis

TREM2

c.184G>A; p.R62C

chr6:41129208-41129208

NM_001271821.1

25.5

n.r.

Risk modifier

APOE

     

Risk modifier

EOD-3

AD

45

f

2

E3/E3

       

EOD-4

AD

51

f

4

E4/E3

APOE

     

Risk modifier

EOD-5

nfPPA

58

f

2

E3/E2

       

EOD-6

AD

56

f

3

E3/E3

       

EOD-7

AD/PCA

56

f

4

E3/E3

       

EOD-8

bvFTD

56

m

4

E3/E3

BACE1

c.1427T>C; p.M476T

chr11:117160361-117160361

NM_012104.3

26.4

n.r.

Unknown

VPS13C

c.9757A>G; p.S3253G

chr15:62173781-62173781

NM_020821.2

29.5

n.r.

Unknown

EOD-9

AD

55

f

3,5

E4/E3

APOE

     

Risk modifier

EOD-10

AD

58

f

3,5

E3/E3

       

EOD-11

AD

63

m

4

E3/E3

       

EOD-12

mixed dementia (AD+VD)

55

m

3,5

E4/E3

APOE

     

Risk modifier

EOD-13

AD

61

m

4,5

E3/E3

       

EOD-14

AD/lpPPA

61

m

4

E4/E3

APOE

     

Risk modifier

VPS13C

c.4300C>T; p.V1434I

chr15:62244179-62244179

NM_020821.2

24.8

n.r.

Unknown

EOD-15

nfPPA

64

m

2

E3/E3

DCTN1

c.2218C>T; p.E740K

chr2:74594514-74594514

NM_004082.4

24.0

n.r.

Unknown

EOD-16

AD

56

f

4

E3/E3

       

EOD-17

AD (PD)

60

m

1

E4/E3

APOE

     

Risk modifier

MAPK8IP3

g.chr16:1816528 A>G; c.2817-2A>G

chr16:1816528-1816528

NM_015133.3

22.3

n.r.

Unknown

EOD-18a

AD

47

m

4

E3/E3

APP

g.chr.21:(?_26958019)-(27852747_?)dup

   

P

Relevant for diagnosis

      

ABCA7

c.2914C>T; p.P972S

chr19:1051537-1051537

NM_019112.3

25.3

n.r.

Potential risk modifier

EOD-19

AD

51

m

1

E3/E3

APP

g.chr.21:(?_27253981)-(27542937_?)dup

   

P

Relevant for diagnosis

EOD-19 (2)b

AD

47

m

1

E3/E3

APP

g.chr.21:(?_27253981)-(27542937_?)dup

   

P

Relevant for diagnosis

EOD-20

AD

57

m

4,5

E3/E3

LRRK2

c.7397T>A; p.L2466H

chr12:40760814-40760814

NM_198578.3

25.7

VUS

Unknown

EOD-21

CAA

54

m

3,5

E4/E4

APOE

     

Relevant for diagnosis

EOD-22

AD

49

m

4

E4/E4

APOE

     

Relevant for diagnosis

EOD-23

AD

36

f

1

E3/E3

PSEN1

c.617G>A; p.G206D

chr14:73659420-73659420

NM_000021.3

31.0

P

Relevant for diagnosis

EOD-24

AD

53

m

3,5

E4/E4

APOE

     

Relevant for diagnosis

EOD-25

AD

51

f

3,5

E4/E4

APOE

     

Relevant for diagnosis

EOD-26

AD

56

f

4

E3/E3

DCTN1

c.2980G>C; p.P994A

chr2:74590268-74590268

NM_023019.3

17.3

VUS

Unknown

      

MAPK8IP3

c.2087G>A; p.R696H

chr16:1814180-1814180

NM_015133.3

31.0

n.r.

Unknown

EOD-27

AD

57

f

4

E4/E3

APOE

     

Risk modifier

EOD-28

AD

54

m

4

E3/E3

       

EOD-29

AD

54

m

4

E3/E3

       

EOD-30

AD

64

m

4

E3/E3

       

EOD-31

mixed dementia (AD+VD)

58

m

3,5

E3/E3

       

EOD-32

FTD/svPPA

61

m

4

E3/E3

       

EOD-33

AD

62

f

4,5

E4/E3

APOE

     

Risk modifier

DCTN1

c.521G>A; p.S174L

chr2:74598788-74598788

NM_004082.4

24.4

VUS

Unknown

EOD-34

AD

59

f

2

E4/E3

APOE

     

Risk modifier

EOD-35

AD

55

m

3,5

E4/E3

APOE

     

Risk modifier

EOD-36c

AD

64

m

2

E4/E3

TREM2

c.140G>A; p.R47H

chr6:41129252-41129252

NM_018965.3

9.7

LB

Risk modifier

APOE

     

Risk modifier

EOD-37

AD

52

f

3,5

E3/E3

LRRK2

c.7397T>A; p.L2466H

chr12:40760814-40760814

NM_198578.3

25.7

VUS

Unknown

EOD-38

AD

52

f

3,5

E4/E3

APOE

     

Risk modifier

EOD-39

AD

63

f

3

E4/E3

APOE

     

Risk modifier

EOD-40

AD

55

f

4

E4/E3

APOE

     

Risk modifier

EOD-41

AD

58

m

3,5

E3/E3

       

EOD-42

AD

39

m

4

E3/E2

       

EOD-43

AD

63

m

4

E3/E3

VPS13C

c.3148A>G; p.I1050V

chr15:62256964-62256964

NM_020821.2

0.001

VUS

Unknown

EOD-44

AD/lpPPA

58

f

3,5

E3/E3

SORL1

c.3014T>G; p.M1005R

chr11:121430331-121430331

NM_003105.5

27.9

n.r.

Potential risk modifier

EOD-45

AD

65

m

4

E3/E3

       

EOD-46

CBS+ AD

51

f

3,5

E3/E3

SORL1

c.4606G>A; p.G1536S

chr11:121474988-121474988

NM_003105.5

25.2

B

Risk modifier

EOD-47

AD

54

f

4

E3/E3

       

EOD-48

bvFTD

57

m

4

E3/E3

       

EOD-49

FTD/nfPPA+ALS

58

m

4

E3/E3

TBK1

c.986T>C; p.L276P

chr12:64875636-64875636

NM_013254.3

 

n.r.

Potential risk modifier

VPS13C

c.7436T>C; p.I2429T

chr15:62212307-62212307

NM_020821.2

 

n.r.

Unknown

EOD-50

FTD (bvFTD + nfPPA)

55

f

3,5

E4/E3

PGRN

c.328C>T; p.R110*

chr17:42427098-42427098

NM_002087.3

29.4

P

Relevant for diagnosis

APOE

     

Risk modifier

EOD-51

FTD/svPPA

62

f

4

E3/E3

       

EOD-52

AD

57

m

4

E4/E3

APOE

     

Risk modifier

EOD-53

AD

57

m

4

E4/E4

APOE

     

Relevant for diagnosis

LRRK2

c.7377G>A; p.M2459I

chr12:40758839-40758839

NM_198578.3

17.7

n.r.

Unknown

EOD-54

AD

59

m

1

E4/E3

APOE

     

Risk modifier

EOD-55

AD

49

m

4

E3/E3

       

EOD-56

AD

61

m

3,5

E3/E3

       

EOD-57

AD/lpPPA

57

f

4

E3/E3

       

EOD-58

AD +VD

64

f

3

E3/E3

DCTN1

c.823C>T; p.R141C

chr2:74598126-74598126

NM_004082.3

29.3

VUS

Unknown

EOD-59

bvFTD

52

m

4

E4/E3

APOE

     

Risk modifier

EOD-60

AD

49

f

3

E3/E3

APP

c.2092G>A; p.V586I

chr21:27264096

NM_201413.3

28.2

P

Relevant for diagnosis

  1. aEOD-18: The APP duplication of was confirmed to be ‘de novo’. Both parents did not show this duplication
  2. bEOD-19 (2) is the brother of EOD19. He was also affected by AD and carrier of the same duplication. EOD 19 (2) was not included in the analyses of AAO and FH
  3. cEOD-36: ClinVar assessment of TREM2 p.R47H of LB (likely benign) refers to Nasu-Hakola disease. However, p.R47H is an established risk variant for dementia [15]
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Human Genomics

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