Table 1. Spectrum of elastin gene mutations.
| Family patient | Nucleotide change | Location | Amino-acid change | Clinical phenotype |
|---|---|---|---|---|
| SVAS-1 | None | PPS | ||
| SVAS-2 | ||||
| I:1 | None | Unaffected | ||
| II:1 | c.304delG | Exon 6 | L121X | SVAS, PPS |
| II:2 | c.304delG | Exon 6 | L121X | Aortic coarctation |
| SVAS-4 | None | SVAS, aortic coarctation | ||
| SVAS-5 | None | SVAS, PPS | ||
| SVAS-6 | None | SVAS | ||
| SVAS-7 | ||||
| I:1 | c.1161delC | Exon 20 | L463X | SVAS |
| I:2 | None | Unaffected | ||
| II:1 | c.1161delC | Exon 20 | L463X | SVAS |
| ASD4 | None | SVAS, interatrial defect | ||
| NW29 | ||||
| I:1 | None | Unaffected | ||
| I:2 | c.838_839insG | Exon 16 | K312X | Nonpenetrant (healthy) |
| II:1 | c.838_839insG | Exon 16 | K312X | SVAS |
| II:2 | c.838_839insG | Exon 16 | K312X | SVAS |
| SW67 | None | SVAS and ADHD | ||
| SW175 | ||||
| I:2 | None | Unaffected | ||
| II:1 | None | SVAS, MR, and dismorphic features | ||
| SW180 | None | SVAS and mild facial features | ||
| SW181 | ||||
| I:1 | None | Unaffected | ||
| I:2 | None | Unaffected | ||
| II:1 | None | SVAS and hypercalcemia | ||
| SW184 | ||||
| I:1 | c.40delC | Exon 1 | L121X | Unaffected |
| I:2 | None | Unaffected | ||
| II:1 | c.40delC | Exon 1 | L121X | SVAS and mild facial features |
| SW282 | ||||
| I:1 | None | Unaffected | ||
| I:2 | None | Unaffected | ||
| II:1 | None | SVAS | ||
| NW37 | ||||
| I:1 | None | SVAS | ||
| I:2 | None | Unaffected | ||
| II:1 | None | Unaffected | ||
| SW287 | ||||
| I:1 | None | Unaffected | ||
| I:2 | None | Unaffected | ||
| II:1 | None | SVAS | ||
| SW141 | ||||
| I:1 | c.1939_1940insTG | Exon 27 | G675X | SVAS |
| I:2 | None | Unaffected | ||
| II:1 | c.1939_1940insTG | Exon 27 | G675X | SVAS and pyloric stenosis |
| SVAS-10 | None | SVAS | ||
| SVAS-11 | None | SVAS | ||
| SVAS-12 | None | SVAS | ||
| SVAS-13 | ||||
| I:1 | c.2044+5G>C | Introns 28–29 | PTC in introns 28–29 | SVAS |
| I:2 | None | Unaffected | ||
| II:1 | None | Unaffected | ||
| II:2 | c.2044+5G>C | Introns 28–29 | PTC in introns 28–29 | SVAS |
| II:3 | c.2044+5G>C | Introns 28–29 | PTC in introns 28–29 | Nonpenetrant(healthy) |
| III:1 | c.2044+5G>C | Introns 28–29 | PTC in introns 28–29 | SVAS |
| SVAS-14 | ||||
| I:1 | None | Unaffected | ||
| II:1 | None | SVAS | ||
| SVAS-15 | ||||
| I:1 | None | Unaffected | ||
| I:2 | None | Unaffected | ||
| II:1 | None | SVAS | ||
| SVAS-16 | ||||
| II:1 | c.163+2T>C | Introns 3–4 | PTC in introns 3–4 | SVAS |
| I:1 | c.163+2T>C | Introns 3–4 | SVAS |
Abbreviations: ADHD, attention-deficit/hyperactivity disorder; MR, mental retardation; PPS, peripheral pulmonary stenosis; SVAS, supravalvar aortic stenosis.
I, II, and III correspond to first, second, and third generation, respectively.