Table 3.
Summary of the ATM gene mutations detected in three Spanish AT patients
| Patient | Genotype*/ Origin | Genomic mutation | Effect on cDNA | Intron/ Exon | Codon change | Consequence |
|---|---|---|---|---|---|---|
| 1 | Compd Htz/Maternal | IVS21 + 1G > CA | 2839del 83 | 21 | Frameshift | Exon 21 skipped, stop at residue 955 [21] |
| 1 | Compd Htz/Paternal | IVS15–2A > C | 1899del 17 | 15 | Frameshift | Stop at residue 632 |
| 1899del 41 | ||||||
| 2 | Homozygous/ | 9008del28 | 9008del28 | 65 | Frameshift | Stop at residue 3008 |
| – | ||||||
| 3 | Compd Htz/ | IVS62 + 1G > A | 8672del 115 | 62 | Frameshift | Exon 62 skipped, stop at residue 2899 [24–25] |
| – |
*
Compd Htz, compound heterozygote