Table 1.
A Summary of the KLHL7 Mutation Screen in Retinopathy Patients
|
Scandinavia adRP Cohort |
United Kingdom adRP Cohort |
University of Michigan N.A. Retinopathy Cohort |
University of Texas N.A. adRP Cohort |
DB SNP ID | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Proband | Control | Proband | Control | Proband | Control | Proband | Control | |||
| Putative Disease-Causing Changes | ||||||||||
| Exon 6 | c.449G→A (p.S150N) | 1 | 0 | 0 | 0 | 0 | 0 | 1 | N/A | |
| Exon 6 | c.457G→A (p.A153T) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | N/A | |
| Exon 6 | c.458C→T (p.A153V) | 1 | 0 | 1 | 0 | 0 | 0 | 1 | N/A | |
| Variants | ||||||||||
| 5′ UTR | c.-235G→T | N/A | N/A | 0 | N/A | 3 | N/A | N/A | N/A | |
| 5′ UTR | c.-118G→A | N/A | N/A | 0 | N/A | 1 | N/A | N/A | N/A | |
| Exon 2 | c.53A→G (p.K18R, isoform 2) | N/A | N/A | 0 | N/A | 4 | N/A | 1 | N/A | rs17147682 |
| Exon 5 | c.352C→T (p.L118L) | N/A | N/A | 0.64 C, 0.36 T | N/A | 0.68 C, 0.32 T | N/A | 0.76 C, 0.24 T | N/A | rs15775 |
| Exon 6 | c.513G→A (p.Q171Q) | 0 | 0 | 0 | 0 | 1 | 0 | 0 | N/A | |
| Exon 7 | c.763G→A (p.D255N) | N/A | N/A | 0 | N/A | 1 | 0 | 0 | N/A | |
| Exon 8 | c.816G→A (p.L272L) | N/A | N/A | 0 | N/A | 0 | N/A | 1 | N/A | |
| Exon 9 | c.1177+77C→T | N/A | N/A | 0.96 C, 0.04 T | N/A | 0 | N/A | 0 | N/A | rs858312 |
| Exon 10 | c.1380-12T→G | N/A | N/A | 0 | N/A | 0 | N/A | 1 | N/A | |
| Exon 10 | c.1267C→T (p.H423Y) | N/A | N/A | 0 | N/A | 0 | N/A | 1 | N/A | |
| Exon 10 | c.1353T→C (p.C451C) | N/A | N/A | 0 | N/A | 0 | N/A | 1 | N/A | |
| Exon 11 | c.1414A→G (p.K472Q) | N/A | N/A | 0 | N/A | 1 | 0 | 1 | N/A | |
| Exon 11 | c.1440A→G (p.K480K) | N/A | N/A | 1 | N/A | 0 | N/E | 0 | N/A | |
| Exon 12 | c.1578T→C (p.V526V) | N/A | N/A | 0 | N/A | 1 | N/A | N/A | N/A | |
| 3′ UTR | c.∗7A→G | N/A | N/A | 0 | N/A | 1 | N/A | N/A | N/A | |
| 3′ UTR | c.∗23_35delinsTG | N/A | N/A | 0 | N/A | 4 | N/A | N/A | N/A | |
| Patients Analyzed | ||||||||||
| 37 | 102 | 96 | 185 | 282 | 183 (Exon 6) | 87 | N/A | |||
Probands and unaffected controls were sequenced for changes in exons 1 through 12 of KLHL7. Abbreviations are as follows: RP, retinitis pigmentosa; adRP, autosomal-dominant retinitis pigmentosa; N.A., North American; U, university; N/A, no patients sequenced; N/E, not examined; UTR, untranslated region. Compound changes include one person with c.-235G→T and c.53A→G changes, one with c.1578T→C and c.∗7A→G, two with c.53A→G and c.∗23_35delinsTG, and one with c.-235G→T, c.53A→G, and c.∗23_35delinsTG. The c.1267C→T (p.H423Y) alteration was not observed as segregating with the disease and was therefore considered a non-disease-causing variant. North American controls numbering 166 individuals were examined for exons 7 and 11.