Table 2

Point variations and phenotypic description of the patients exhibiting a SMARCB1 variation

Patient

Exon

Nucleotide change

Expected effect

Sex

Age

Disease


N00390

1

c.30del

p.Phe10LeufsX6

F

35

11 non-vestibular schwannomas

N00837

1

c.34C > T

p.Gln12X

F

24

Multiple spinal schwannomas

N00328

4 (ivs)

c.[500+5G > T,505G > T]

p.[Arg121_Cys167delinsSer,Gly169X]

M

27

1 facial nerve

7 spinal schwannomas

2 meningiomas

N00106

5 (ivs)

c.501-23T > G

-

M

56

2 spinal schwannomas

N00225

7

c.832C > T

p.Gln278X

M

22

Multiple schwannomas and meningiomas

N00334

7

c.971_978delinsTGCTACCT

p.Lys324_Tyr326delinsIleLeuPro

M

30

Unilateral V-, VII-, spinal schwannomas

12 cases

c.[897G > A;986+57_986+58dup;1119-41G > A]


Rousseau et al. BMC Neurology 2011 11:9   doi:10.1186/1471-2377-11-9

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