Table 2 Predicted rates of mosaicism by pathogenic variant types detected in de novo versus inherited NF2 disease

From: Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

 

Mosaic

%

De novo

% of all de novo

% with identified heterozygote variants

Inherited

%

p value inherited compared with mosaic

p value inherited compared with identified de novo

Nonsense

97

41.81%

112

10.62%

28.43%

35

9.75%

<0.0001

<0.0001

Frameshift deletion

49

21.12%

62

5.88%

15.74%

62

17.27%

0.23

0.62

Frameshift insertion

8

3.45%

13

1.23%

3.30%

4

1.11%

0.07

0.05

Splice site

24

10.34%

90

8.53%

22.84%

127

35.38%

<0.0001

0.0002

Missense

5

2.16%

20

1.90%

5.08%

33

9.19%

0.0008

<0.0001

In-frame deletion

7

3.02%

1

0.09%

0.25%

1

0.28%

<0.0001

ns

CNV

32

13.79%

85

8.06%

21.57%

76

21.17%

0.04

0.92

Chromosome translocation

0

0.00%

2

0.19%

0.51%

5

1.39%

n/a

0.26

5′ UTR

0

0.00%

2

0.19%

0.51%

4

1.11%

n/a

ns

Total constitutional

  

387

36.68%

     

Ring 22

10

4.31%

10

0.95%

2.54%

0

0.00%

n/a

n/a

Mosaic variant total

232

100.00%

232a

21.99%

n/a

0

0.00%

n/a

n/a

LZTR1

0

0.00%

7

0.66%

n/a

2

0.56%

n/a

n/a

Not found

0

0.00%

429

40.66%

n/a

10

2.79%

n/a

<0.0001

Total

232

100.00%

1055

  

359

100.00%

  
  1. CNV copy-number variation, NF2 neurofibromatosis 2, UTR untranslated region.
  2. a10 ring 22 also counted in mosaic group.
Back to article page