Table 1 Summary of the clinical and genetic data

1

16,9

4

2

c.120delG heterozygous

p.Trp41GlyfsX17

Frameshift

2

34,3

3

c.289C>T heterozygous de novo (both parents wildtype)

p.Pro97Ser

Missense

3

22,1

c.464G>A heterozygous de novo

p.Trp155^*

Nonsense

4

31,8

2

0

c.961G>T heterozygous

p.Glu321^*

Nonsense

5

37,6

4

c.1065+1G>C heterozygous

IVS7+1G>C ds

Splice site mutation

6

25,4

3

1

c.1065+1G>T heterozygous

IVS7+1G>T ds

Splice site mutation

7

17,1

4

1

c.1087C>T heterozygous

p.Gln363^*

Nonsense

8

41,4

2

0

c.1351_1352insAG heterozygous

p.Gly452ArgfsX47

Frameshift

9

32,1

c.1580_1581insCAGAAGGACCTGGGGGATG heterozygous

p.Arg527ProfsX100

Frameshift

10

57,0

c.2022+1G>A heterozygous

IVS13+1G>A ds

Splice site mutation

11

II/1

3,4

4

0

c.2192dupA heterozygous maternal

p.Tyr731^*

Nonsense

I/1

31,9

3

0

c.2192dupA heterozygous de novo

p.Tyr731^*

Nonsense

12

30,0

2

1

c.2565+2T>G heterozygous

IVS17+2T>G ds

Splice site mutation

13

19,0

c.2612dupA heterozygous de novo

p.Asp871GlufsX4

Frameshift

14

17,9

1

1

c.2943_2944_ + 2delGAGT heterozygous de novo

IVS20_-2_ + 2del ds

Splice site mutation

15

II/1

33,3

c.2983_2987delTCAAA heterozygous maternal

p.Ser995GlyfsX31

Frameshift

I/1

55,4

c.2983_2987delTCAAA heterozygous

p.Ser995GlyfsX31

Frameshift

16

17,2

2

2

c.3174delT heterozygous

p.Leu1059TrpfsX12

Frameshift

17

16,6

2

1

c.3742C>T heterozygous

p.Gln1248^*

Nonsense

18

37,3

3

1

c.4294C>T heterozygous

p.Gln1432^*

Nonsense

19

51,7

3

0

Deletion exon 25 heterozygous

?

Exondeletion

20

1,7

c.4303+2T>G heterozygous

IVS25+2T>G ds

Splice site mutation

21

18,0

c.4576G>T heterozygous

p.Gly1526^*

Nonsense

22

12,4

c.4720delG heterozygous de novo

p.Asp1574ThrfsX39

Frameshift

23

II/1

33,0

2

0

c.4994dupA heterozygous maternal

p.Ile1666AspfsX12

Frameshift

I/1

65,8

c.4994dupA heterozygous

p.Ile1666AspfsX12

Frameshift

24^a

II/1^a

30,7

1

0

c.5686G>A heterozygous paternal

p.Gly1896Arg/Splice

Splice site mutation

II/2^a

28,9

3

1

c.5686G>A heterozygous paternal

p.Gly1896Arg/Splice

Splice site mutation

I/1 male^a

62,2

2

0

c.5686G>A mosaicism

p.Gly1896Arg/Splice

Splicesitemutation

25

47,0

2

1

c.6321C>A heterozygous

p.Cys2107^*

Nonsense

26

17,8

c.6898C>T heterozygous

p.Gln2300^*

Nonsense

27

24,9

1

2

c.6908-2A>G heterozygous

IVS42-2A>G

Splice site mutation

28

2,5

4

2

c.6994_7003dupGCCCGCCGCC heterozygous

p.Leu2335ArgfsX8

Frameshift

29

Male

38,2

2

3

c.7055_7070delCTTTTGCAGTCAGCCT mosaicism

p.Ser2352^*

Nonsense

30

44,0

2

2

c.7075_7077delinsT heterozygous

p.Gly2359CysfsX25

Frameshift

31

21,7

c.7115C>G heterozygous

p.Ser2372^*

Nonsense

32

II/1

24,5

2

0

Heterozygous deletion exon 44 maternal

Loss of function

Exon deletion

II/2

24,1

2

0

Heterozygous deletion exon 44 maternal

Loss of function

Exon deletion

I/1

53,7

4

0

Heterozygous deletion exon 44

Loss of function

Exon deletion

33

27,9

c.7223delG heterozygous de novo

p.Gly2408AlafsX45

Frameshift

34

1,0

4

2

c.7255C>T heterozygous

p.Arg2419^* de novo

Nonsense

35

42,2

2

0

c.7533delC heterozygous

p.Phe2512SerfsX24

Frameshift

36

7,9

4

1

c.7714G>A heterozygous; unclassified variant

p.Val2572Ile - VUS3

Missense/splice site mutation?

37

8,2

1

8

c.7840dupT heterozygous

p.Tyr2614LeufsX136

Frameshift

38

II/1

16,5

4

1

Heterozygous deletion exons 40 to 3′UTR maternal

Loss of function

Exon deletion

I/1

41,5

4

0

Heterozygous deletion exons 40 to 3′UTR de novo

Loss of function

Exon deletion

39

31,3

3

2

Deletion exon 46 + duplication exons 4–22 de novo (both parents wildtype)

Loss of function

Complex genomic rearrangement