Table 1 of Suzuki, Mol Vis 2009; 15:801-809. Table 1 of Suzuki, Mol Vis 2009; 15:801-809.
Table 1. Mutations identified in KS patients.
Patient |
Mutation |
Region |
Affected isoforms |
Description of mutation |
|---|---|---|---|---|
| KS1 | c.12–2A>T (homozygous) | Intron 1 | Short isoform | [3] |
| KS3 | c.2969–2978delCAGGGCCCCC (maternal) | Exon 36 | All isoforms | [4] |
| c.3514–3515delCT (paternal) | Exon 41 | |||
| KS4 | c.1238–1239insA (maternal) | Exon 10 | All isoforms | [4] |
| c.3514–3513delCT (paternal) | Exon 41 | |||
| KS5 | c.3514–3515delCT (maternal) | Exon 41 | All isoforms | [4] |
| c.2105delT (paternal) | Exon 23 | |||
| KS8 | c.12–2A>T (homozygous) | Intron 1 | Short isoform | [4] |
| KS9 | c.3277C>T (homozygous) | Exon 40 | All isoforms | [4] |
| KS10 | c.2416C>T (homozygous) | Exon 18 | All isoforms | [5], [17] |
| KS11 | c.3769G>A (p.D1437N *) (maternal) | Exon 42 | All isoforms | [15] |
| c.2823_2824insC (paternal) | Exon 35 | |||
| KS12 | c.3601G>A (p.A1381T *) (homozygous) | Exon 41 | All isoforms | [18] |
| KS13 | c.3544+3A>C (homozygous) | Intron 36 | All isoforms | [16] |
| KS14 | c.2673_2674insC (heterozygous) | Exon 33 | All isoforms | Novel mutation |
| KS15 | c.2824_2831delGGCCCCCC (heterozygous) | Exon 35 | All isoforms | Novel mutation |
| KS16 | c.3514–3515delCT (maternal) | Exon 41 | All isoforms | Novel mutation |
| exon 41 deleted (paternal) | Novel mutation | |||
| KS17 | c.2673_2674insC (maternal) | Exon 33 | All isoforms | Novel mutation |
| c.929–2A>G (paternal) | Intron 7 | Novel mutation |