Table 2 Point variations and phenotypic description of the patients exhibiting a SMARCB1 variation
From: SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
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] |