Table 1.
Likely pathologic mutations in USH2A detected in 20 Usher type II patients
| Location in exon | Base change | Predicted codon change | Number of alleles | Individual’s genotype(s) | References |
|---|---|---|---|---|---|
| Exon 6 | c.908G>Aa | p.R303H | 1 | Compound heterozygote with p.W3955X (1) | This study |
| Exon13 | c.2299delG | p.E767fs | 7 | Homozygous (2)/Heterozygotes (3) | 44,54 |
| Exon16 | c.3187_3188delCA | p.Q1063fs | 1 | Complex allele with p.E2288X homozygous (1) | 43 |
| Exon 27 | c.5514T>A | p.Y1838X | 1 | Heterozygote (1) | 48 |
| Exon 36 | c.6862G>Ta | p.E2288X | 2 | Complex allele with c.3187delCA (1) | This study |
| Exon 45 | c.8981G>Aa | p.W2994X | 2 | Compound heterozygote with p.W4175C (1) Heterozygote (1) | This study |
| Exon 61 | c.11864G>A | p.W3955X | 1 | Compound heterozygote with p.R303H (1) | 39 |
| Exon 61 | c.11875delCa | p.Q3959fs | 1 | Heterozygote (1) | This study |
| Exon 63 | c.12525G>Ca | p.W4175C | 1 | Compound heterozygote with p.W2994X (1) | This study |
| Exon 71 | c.15377T>C | p.I5126T | 1 | Heterozygote (1) | 48 |
Numbers in the parentheses are the number of individuals with the mutant allele identified.
a
Novel changes identified in the present study.