Fourteen Different Splice Mutations in 16 SCID Patients With IL2RG Defects
| IL2RG Exon . | cDNA Mutation . | Changed Nucleotides (underlined) . | Codon . | mRNA Detected4-150 . | γc Detected4-151 . | References‡ . |
|---|---|---|---|---|---|---|
| 1 | 129(+1) | gtggg→atggg | 39 | NA | NA | |
| 129(+2) [2]ρ | gtggg→gcggg | 39 | Trace, large | − | ||
| 2 | 283(+1) | gtatg→atatg | 90 | NA | NA | |
| 3 | 284(−15) [2] | a→g | 90 | − | − | 11 |
| 468(+1) | gtaat→ataat | 152 | Trace, small | − | 6 | |
| 4 | 469(−1) | ag→aa | 152 | NA | NA | |
| 469(−2) | ag→gg | 152 | NA | NA | ||
| 608(+5) | gtgag→gtgaa | 198 | NA | − | ||
| 6 | 868(+1) | gtgag→ttgag | 285 | Trace | Trace | |
| 868(+2) | del tg; gtgag→g(_)ag | 285 | NA | NA | ||
| 868(+5) | gtgag→gtgac | 285 | NA | NA | ||
| 7 | 938(+1) | gtgag→ttgag | 309 | Trace, large | Trace | |
| 938(+1) | gtgag→atgtg | 309 | Trace, large | Trace | ||
| 938(+5) | gtgag→gtgac | 309 | NA | NA |
| IL2RG Exon . | cDNA Mutation . | Changed Nucleotides (underlined) . | Codon . | mRNA Detected4-150 . | γc Detected4-151 . | References‡ . |
|---|---|---|---|---|---|---|
| 1 | 129(+1) | gtggg→atggg | 39 | NA | NA | |
| 129(+2) [2]ρ | gtggg→gcggg | 39 | Trace, large | − | ||
| 2 | 283(+1) | gtatg→atatg | 90 | NA | NA | |
| 3 | 284(−15) [2] | a→g | 90 | − | − | 11 |
| 468(+1) | gtaat→ataat | 152 | Trace, small | − | 6 | |
| 4 | 469(−1) | ag→aa | 152 | NA | NA | |
| 469(−2) | ag→gg | 152 | NA | NA | ||
| 608(+5) | gtgag→gtgaa | 198 | NA | − | ||
| 6 | 868(+1) | gtgag→ttgag | 285 | Trace | Trace | |
| 868(+2) | del tg; gtgag→g(_)ag | 285 | NA | NA | ||
| 868(+5) | gtgag→gtgac | 285 | NA | NA | ||
| 7 | 938(+1) | gtgag→ttgag | 309 | Trace, large | Trace | |
| 938(+1) | gtgag→atgtg | 309 | Trace, large | Trace | ||
| 938(+5) | gtgag→gtgac | 309 | NA | NA |
Abbreviation: NA, not available.
By Northern blot.
By cell surface IF staining with TUGh4 monoclonal antibody.
Previous publications, including those by our group, clinical reports and identical mutation found by others.
ρ If multiple cases in our series had the same mutation, the number is shown in brackets.