In the June 2002 issue of the Journal, in the article “A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa,” by Breuer et al. (70:1545–1554), the authors have identified errors in the numbering of RPGR-ORF15 mutations, in table 4, that were due to the use of prepublication sequence from Vervoort and colleagues (Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF [2000] Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 25:462–466). These errors have now been identified and corrected, and a revised version of table 4 is presented below. (We thank Dr. Dror Sharon for bringing this to our attention.) The authors regret the errors.
Table 4.
Mutations in RPGR-ORF15 in Affected Hemizygotes with XLRP
| Mutationa | Protein Changeb | No. of Patients Affected |
| Deletion: | ||
| 432delG | Glu144fsTer230 | 1 |
| 483-4delGA | Glu161fsTer182 | 9 |
| 481-4delGAGA | Arg160fsTer229 | 1 |
| 499-502delAGGA | Lys166fsTer229 | 1 |
| 503-6delGGGA | Gly168fsTer231 | 1 |
| 570-1delAG | Arg190fsTer248 | 1 |
| 631delA | Glu210fsTer229 | 1 |
| 652-3delAG | Glu217fsTer248 | 7 |
| 673-4delAG | Glu224fsTer248 | 2 |
| 689-92delAGAG | Glu230fsTer233 | 3 |
| 1184-5delGG | Glu395fsTer493 | 1 |
| 1244-5delGG | Glu415fsTer493 | 1 |
| 1339-40delAG | Glu446fsTer493 | 1 |
| Insertion: | ||
| 185ins, 5bp | Ala61fsTer111 | 1 |
| 352-460dup | 1 | |
| Nonsense: | ||
| 369G→T | Glu123Ter | 1 |
| 393G→T | Glu131Ter | 1 |
| 423G→A | Glu141Ter | 3 |
| 507G→T | Glu169Ter | 3 |
Nucleotide positions and nomenclature are based on the work of Vervoort et al. (2000).
Frameshift mutations are designated according to the following example: Glu144fsTer230 refers to a frameshift mutation in which Glu144 is the first amino acid altered, with termination of the ORF at residue 230.