Phenotypes and genotypes of affected EVA subjects
| Subject | Family | Sex | EVA* | Goitre | Perchlorate | Phenotype† | SLC26A4 genotype | |
|---|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | |||||||
| *B, bilateral; L, left; R, right; †I, indeterminate; NS, non-syndromic; PS, Pendred syndrome; ‡SLC26A4 sequencing for affected siblings was performed only for mutations detected in probands. | ||||||||
| 1159 | 115 | M | B | No | Not done | I | L236P | L445W‡ |
| 1163 | 115 | F | B | No | Abnormal | PS | L236P | L445W‡ |
| 1171 | 115 | F | B | Yes | Abnormal | PS | L236P | L445W |
| 1166 | 118 | M | B | No | Normal | NS | L597S | wt |
| 1167 | 118 | M | R | No | Normal | NS | L597S‡ | wt |
| 1281 | 133 | M | B | No | Normal | NS | R776C | wt |
| 1282 | 133 | F | R | No | Normal | NS | R776C | wt |
| 1290 | 137 | M | B | No | Not done | I | wt | wt |
| 1303 | 142 | M | B | No | Normal | NS | L445W | wt |
| 1304 | 142 | M | R | No | Normal | NS | L445W‡ | wt |
| 1343 | 144 | M | B | No | Not done | I | wt | wt |
| 1422 | 145 | F | B | No | Not done | I | L597S | wt |
| 1412 | 148 | M | B | Yes | Abnormal | PS | X286 | IVS8+1G>A |
| 1387 | 151 | F | B | No | Not done | I | G209V | Y530S |
| 1377 | 153 | F | B | Yes | Abnormal | PS | V138F | V138F |
| 1425 | 156 | M | B | No | Normal | NS | IVS8+1G>A | wt |
| 1426 | 156 | F | B | No | Not done | I | IVS8+1G>A‡ | wt |
| 1459 | 163 | M | L | No | Normal | NS | wt | wt |
| 1445 | 166 | F | R | No | Not done | NS | wt | wt |
| 1447 | 167 | F | B | No | Abnormal | PS | E384G | L597S |
| 1460 | 171 | F | B | No | Normal | NS | wt | wt |
| 1464 | 175 | F | B | No | Not done | I | wt | wt |
| 1473 | 176 | F | B | No | Normal | NS | L597S | wt |
| 1470 | 177 | M | B | No | Normal | NS | wt | wt |
| 1495 | 182 | F | B | No | Normal | NS | F335L | wt |
| 1529 | 188 | F | B | Yes | Not done | PS | L236P | 1536–1537delAG |
| 1530 | 188 | F | B | Yes | Not done | PS | L236P | 1536–1537delAG‡ |
| 1556 | 193 | F | B | Yes | Not done | PS | G209V | IVS10-1G>C |
| 1604 | 194 | M | B | No | Not done | I | V138F | 1343–1344insAGTC |
| 1564 | 211 | M | B | Yes | Abnormal | PS | FS464 | Y530H |
| 1583 | 213 | F | L | No | Not done | NS | wt | wt |
| 1571 | 216 | F | B | Yes | Not done | PS | V138F | E384G |
| 1580 | 217 | M | R | No | Normal | NS | E384G | wt |
| 1590 | 218 | M | B | No | Not done | I | V609G | wt |
| 1598 | 219 | F | B | Yes | Normal | NS | IVS1-2A>G | wt |
| 1599 | 219 | F | B | No | Not done | I | wt | wt |
| 1602 | 221 | M | L | No | Not done | NS | wt | wt |
| 1618 | 225 | F | L | Yes | Normal | NS | wt | wt |
| 1616 | 227 | F | B | Yes | Abnormal | PS | C565Y | Q514R |