TECTA mutations and associated phenotype
| Hearing loss | |||||
|---|---|---|---|---|---|
| Mutant allele | Location domain | Onset | Phenotype | Audiometric profile | References |
| DFNA8/A12 | |||||
| Cys1057Ser | Exon 10 (zonadhesin) | Postlingual | Mild to severe, progressive | High frequency | 4 |
| Cys1619Ser | Exon 14 (zonadhesin) | Variable | Mild to moderate-severe, progressive | High frequency | 3 |
| Leu1820Phe, Gly1824Glu | Exon 17 (zona pellucida) | Prelingual | Mild to moderate, stable | Mid frequency | 6 |
| Cys1837Gly | Exon 17 (zona pellucida) | Postlingual | Mild to moderate, progressive | Mid frequency | 5 |
| Tyr1870Cys | Exon 18 (zona pellucida) | Prelingual | Moderate to moderate-severe, stable | Mid frequency | 6 |
| Arg2021His | Exon 20 (zona pellucida) | Prelingual | Moderate, stable | Mid frequency | 7 |
| DFNB21 | |||||
| 649insC | Exon 5 | Prelingual | Moderate-severe | Flat or mid frequency | Present report |
| IVS9+1G→A | Intron 9 | Prelingual | Severe-profound | Not defined | 8 |
| 6037delG | Exon 20 | Prelingual | Moderate-severe | Flat or mid frequency | Present report |