Characteristics of the WT1 aberrations detected in the diagnostic samples of 35 childhood AML patients
| UPN . | Mutation(s)* . | Exon . | Type of mutation . | Protein level† . | More than one allele affected? . |
|---|---|---|---|---|---|
| 1 | c.905delGinsCC | 7 | frame-shift | yes | |
| c.902_938dup37 | 7 | frame-shift | |||
| c.943T>C | 7 | missense | p.Ser316Pro | ||
| 2 | c.901C>T | 7 | nonsense | p.Arg301X | yes |
| del11p13, including WT1‡ | |||||
| 3 | c.934_935insA | 7 | frame-shift | yes | |
| c.979T>C | 7 | missense | p.Tyr327His | ||
| 4 | c.[920_932del13;934C>G] | 7 | frame-shift | no | |
| 5 | c.524C>A | 2 | nonsense | p.Ser175X | unknown |
| c.584_585insCCGG | 3 | frame-shift | |||
| 6 | c.938C>A | 7 | nonsense | p.Ser313X | yes |
| c.935_939dupCGGTC | 7 | frame-shift | |||
| 7 | c.938_939dupTC | 7 | frame-shift | no | |
| 8 | c.905delGinsCC | 7 | frame-shift | no | |
| 9 | c.934_1009dup76 | 7 | frame-shift | no | |
| 10 | c.[901C>T;904_905insGA] + [901C>T;904_905insGA] | 7 | nonsense plus frame-shift | p.Arg301X | yes |
| 11 | c.933delA | 7 | frame-shift | yes | |
| c.1188_1189ins17 | 9 | frame-shift | |||
| 12 | c.1186G>A | 9 | missense | p.Asp396Asn‖ | no |
| 13 | c.937_940dupTCGG | 7 | frame-shift | no | |
| 14 | c.901delCinsGCG | 7 | frame-shift | no | |
| 15 | c.937_940dupTCGG | 7 | frame-shift | no | |
| 16 | c.905delGinsCC | 7 | frame-shift | yes | |
| c.926_935del10ins12 | 7 | frame-shift | |||
| 17 | c.905_906insTT | 7 | frame-shift | yes | |
| c.895-1_901GGATGTGC>CAACGGG | 7 | frame-shift plus affects splice site | |||
| 18 | c.[937_938insG] + [937_938insG] | 7 | frame-shift | yes | |
| 19 | c.905_906ins17 | 7 | frame-shift | yes | |
| c.924_925insGG | 7 | frame-shift | |||
| 20 | c.934_935insG | 7 | frame-shift | no | |
| 21 | c.924_925insGGTT | 7 | frame-shift | yes | |
| c.938_939insG | 7 | frame-shift | |||
| 22 | c.[933delA;937_939delTCG;1012T>C] | 7 | frame-shift | yes | |
| c.937_940dupTCGG | 7 | frame-shift | |||
| 23 | c.593delC | 3 | frame-shift | unknown | |
| c.901delCinsGG | 7 | frame-shift | |||
| 24 | c.398insT | 1 | frame-shift | unknown | |
| c.907_908insAT | 7 | frame-shift | |||
| 25 | c.[901_902insG;935G>A] | 7 | frame-shift | no | |
| 26 | c.1173_1174insA | 9 | frame-shift | no | |
| 27 | c.442_442+2GGT>TTG | 1 | affects splice site | unknown | |
| c.901_902insG | 7 | frame-shift | |||
| 28 | c.1072_1073insC | 8 | frame-shift | yes | |
| del 11p13, including WT1§ | |||||
| 29 | c.937_940dupTCGG | 7 | frame-shift | no | |
| 30 | c.934delCinsGG | 7 | frame-shift | no | |
| 31 | c.933_937dupACGGT | 7 | frame-shift | no | |
| 32 | c.1168C>T | 9 | nonsense | p.Arg390X | no |
| 33 | c.895-55_895-2del54insCA | intron 6-7 | affects splice site | yes | |
| c.938C>A | 7 | nonsense | p.Ser313X | ||
| c.1006A>G | 7 | missense | p.K336G | ||
| 34 | c.898_929del32 | 7 | frame-shift | no | |
| 35 | c.900_901insG | 7 | frame-shift | no |
| UPN . | Mutation(s)* . | Exon . | Type of mutation . | Protein level† . | More than one allele affected? . |
|---|---|---|---|---|---|
| 1 | c.905delGinsCC | 7 | frame-shift | yes | |
| c.902_938dup37 | 7 | frame-shift | |||
| c.943T>C | 7 | missense | p.Ser316Pro | ||
| 2 | c.901C>T | 7 | nonsense | p.Arg301X | yes |
| del11p13, including WT1‡ | |||||
| 3 | c.934_935insA | 7 | frame-shift | yes | |
| c.979T>C | 7 | missense | p.Tyr327His | ||
| 4 | c.[920_932del13;934C>G] | 7 | frame-shift | no | |
| 5 | c.524C>A | 2 | nonsense | p.Ser175X | unknown |
| c.584_585insCCGG | 3 | frame-shift | |||
| 6 | c.938C>A | 7 | nonsense | p.Ser313X | yes |
| c.935_939dupCGGTC | 7 | frame-shift | |||
| 7 | c.938_939dupTC | 7 | frame-shift | no | |
| 8 | c.905delGinsCC | 7 | frame-shift | no | |
| 9 | c.934_1009dup76 | 7 | frame-shift | no | |
| 10 | c.[901C>T;904_905insGA] + [901C>T;904_905insGA] | 7 | nonsense plus frame-shift | p.Arg301X | yes |
| 11 | c.933delA | 7 | frame-shift | yes | |
| c.1188_1189ins17 | 9 | frame-shift | |||
| 12 | c.1186G>A | 9 | missense | p.Asp396Asn‖ | no |
| 13 | c.937_940dupTCGG | 7 | frame-shift | no | |
| 14 | c.901delCinsGCG | 7 | frame-shift | no | |
| 15 | c.937_940dupTCGG | 7 | frame-shift | no | |
| 16 | c.905delGinsCC | 7 | frame-shift | yes | |
| c.926_935del10ins12 | 7 | frame-shift | |||
| 17 | c.905_906insTT | 7 | frame-shift | yes | |
| c.895-1_901GGATGTGC>CAACGGG | 7 | frame-shift plus affects splice site | |||
| 18 | c.[937_938insG] + [937_938insG] | 7 | frame-shift | yes | |
| 19 | c.905_906ins17 | 7 | frame-shift | yes | |
| c.924_925insGG | 7 | frame-shift | |||
| 20 | c.934_935insG | 7 | frame-shift | no | |
| 21 | c.924_925insGGTT | 7 | frame-shift | yes | |
| c.938_939insG | 7 | frame-shift | |||
| 22 | c.[933delA;937_939delTCG;1012T>C] | 7 | frame-shift | yes | |
| c.937_940dupTCGG | 7 | frame-shift | |||
| 23 | c.593delC | 3 | frame-shift | unknown | |
| c.901delCinsGG | 7 | frame-shift | |||
| 24 | c.398insT | 1 | frame-shift | unknown | |
| c.907_908insAT | 7 | frame-shift | |||
| 25 | c.[901_902insG;935G>A] | 7 | frame-shift | no | |
| 26 | c.1173_1174insA | 9 | frame-shift | no | |
| 27 | c.442_442+2GGT>TTG | 1 | affects splice site | unknown | |
| c.901_902insG | 7 | frame-shift | |||
| 28 | c.1072_1073insC | 8 | frame-shift | yes | |
| del 11p13, including WT1§ | |||||
| 29 | c.937_940dupTCGG | 7 | frame-shift | no | |
| 30 | c.934delCinsGG | 7 | frame-shift | no | |
| 31 | c.933_937dupACGGT | 7 | frame-shift | no | |
| 32 | c.1168C>T | 9 | nonsense | p.Arg390X | no |
| 33 | c.895-55_895-2del54insCA | intron 6-7 | affects splice site | yes | |
| c.938C>A | 7 | nonsense | p.Ser313X | ||
| c.1006A>G | 7 | missense | p.K336G | ||
| 34 | c.898_929del32 | 7 | frame-shift | no | |
| 35 | c.900_901insG | 7 | frame-shift | no |
UPN indicates unique patient number; nd, not done.
Mutations are described according to the coding DNA sequence (RefSeq NM_0.46642).
All frame-shift mutations are predicted to produce truncated proteins.
Detected by array-CGH and comfirmed by MLPA.
Detected by MLPA.
Mutation is known to be pathogenic in Denys-Drash syndrome.