Table 4.
Pathogenic germline SUFU mutations
| No of family | Type of Mutation | International Denomination | Inherited | MB+ | MB− | Mutation Previously Described |
|---|---|---|---|---|---|---|
| 1* | Splice | c.182 + 3A>T | Inherited from father | 1 | 2 | (21) |
| 2* | FS | c.71del p.Pro24Argfs*72 |
Inherited from mother | 2 | 5 | (12) |
| 3* | Splice | c.1297-1G>C | Inherited from father | 1 | 2 | (21) |
| 4 | FS | c.71del p.Pro24Argfs*72 |
Inherited from father | 1 | 1 | |
| 5* | FS | c.294_295dup p.Tyr99Serfs*23 |
NA | 1 | (21) | |
| 6* | Splice | c.318-10del | Inherited from father | 1 | 2 | (21) |
| 7* | Large duplication | Exon 3 duplication c.318-?_454+?dup |
De novo | 1 | 0 | (21,26) |
| 8 | FS | c.567_571delinsT p.Gln189Hisfs*5 |
Inherited from father | 3 | 2 | |
| 9* | FS | c.1149_1150dup p.Cys384Serfs*3 |
NA | 1 | (21) | |
| 10* | MS | c.422T>G p.Met141Arg |
Inherited from father | 1 | 1 | (21) |
| 11 | Large deletion | Exon 9–12 deletion c.1023-?_1455+?del |
NA | 1 | ||
| 12* | FS | c.71dup p.Ala25Glyfs*23 | Inherited from their mothers** | 3 | 18 | (12) |
| 13 | FS | c.1096_1117delinsGAA p.Leu366Glufs*14 |
Inherited from father | 1 | 1 | |
| 14* | NS | c.1123C>T p.Gln375* |
De novo | 1 | 0 | (21) |
| 15 | Splice | c.1022 + 1G>A | NA | 1 | 0 | (13,23) |
| 16 | Splice | c.1022 + 1G>A | NA | 1 | 0 | (13,23) |
| 17 | Large deletion | Exon 3–12 deletion c.318-?_1455+?del |
NA | 1 | 0 | (24) |
Abbreviations: S: splice, FS: frameshift, MS: missense, NS: nonsense, NA: not available.
*Families and SUFU mutations already described by our group. **The 3 children with medulloblastoma are not siblings, but relatives.