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Table 3 Information on reproductive and history in MLID families with variants in SCMC genes. It should be noted that reproductive and family history was not available for all families. (a) In these families, the mothers were either homozygous or compound heterozygous for maternal effect variants. (b) In the mothers in these families, only one variant could be detected. (only families for which information was provided are listed; gw gestational week; *the variants in these families have already been reported to be associated with BiHDM. aTannorella P, ESHG 2021 meeting, P20.020C)

From: Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Gene

Family ID*

Phenotype of the offspring

Zygosity in mother

Abortions/miscarriages

HDM

ART

Preeclampsia

Aneuploidy

Family history of miscarriages

Reference

(a)

NLRP2

1

BWSp, BWSp

Homozygous

3 (gw8, 24, 36)

     

[15]

6

BWSp, BWSp

Homozygous

 

Yes

    

[23]

48

BWSp

Homozygous

      

a

NLRP5

7

SRSp, BWSp

Compound heterozygous

6

     

[20]

8

BWS, unspecific

Compound heterozygous

4

  

Yes

  

[20]

9

BWSp

Compound heterozygous

      

[20]

11

Unspecific

Homozygous

      

[20]

14

BWSp, healthy

Compound heterozygous

4 (gw12, 23, 23, 29)

     

[21]

53

BWSp

Compound heterozygous

      

Unpublished

54

BWSp

Compound heterozygous

      

Unpublished

NLRP7

16*

BWSp

Compound heterozygous

2 (gw4, 4)

Yes

   

Yes

[15]

17*

BWSp

Compound heterozygous

 

Yes

    

[15]

PADI6

20

BWSp, BWSp

Compound heterozygous

3 (gw33, gw11, gw?)

   

69,XXY

 

[39]

21

SRSp

Compound heterozygous

     

Yes

[15]

22

BWSp

Compound heterozygous

      

[15]

25

BWSp, BWSp

Compound heterozygous

      

[16]

26

BWSp

Compound heterozygous

1 (gw20)

     

[16]

49

BWSp

Compound heterozygous

 

8

    

a

PADI6, NLRP5

51

SRSp

Compound heterozygous, heterozygous

      

[34]

(b)

NLRP2

2

SRSp

Heterozygous

  

ICSI

   

[15]

3

Growth retardation

Heterozygous

    

47,XXY

Yes

[15]

4

TNDM

Heterozygous

2

     

[15]

5

SRSp

Heterozygous

1

     

[15]

NLRP5

10

SRSp, healthy

Heterozygous

      

[20]

12

SRSp

Heterozygous

      

[40]

13

SRSp

Heterozygous

      

[40]

NLRP7

15*

Unspecific

Heterozygous

2

Yes

    

[41]

18 *

SRSp

Heterozygous

 

Yes

    

[15]

19

BWSp, unspecific

Cis

1

  

Yes

 

Yes

[24]

PADI6

23

SRSp

Heterozygous

      

[15]

24

SRSp

Heterozygous

      

[15]

27

BWSp

Heterozygous

      

[16]

52

SRSp

Heterozygous

      

[42]

55

BWSp

Heterozygous

      

Unpublished