There are two errors in the RP-1164 row and Nucleotide Change and Protein Change columns of Table 1. The mutation c.863dupA should be c.862dupA and the mutation p.M289Y*18 should be p.T288Nfs*19. There is also an error in Fig 1 under the panel RP-1164. The mutation p.M289Y*18 should be p.T288Nfs*19. Please view the correct Table 1 and Fig 1 here.
Table 1. RD mutations identified by WES analyses.
| FAMILY ID | INDEX PATIENT ID | GENE (OMIM entry) | NUCLEOTIDE CHANGE | PROTEIN CHANGE | NOVEL/KNOWN | REFERENCE |
|---|---|---|---|---|---|---|
| RP-0674 | 01–0570 | ABCA4 | c.287delA | p.N96Tfs*19 | novel | |
| (601691) | c.6148G>C | p.V2050L | known | [43] | ||
| RP-0298 | 95–0103 | ABCA4 | c.4720G>T | p.E1574* | known | [44] |
| c.950delG | p.G317Afs*57 | novel | ||||
| RP-1102 | 07–0366 | ABCA4 | c.2285C>A (homoz) | p.A762E | known | [45] |
| RP-1164 | 07–0360 | CHM (300390) | c.862dupA | p.T288Nfs*19 | novel | |
| RP-1263 | 08–0177 | USH2A | c.920_923dupGCCA | p.H308Qfs*16 | known | [46] |
| (608400) | c.12574C>T | p.R4192C | novel | |||
| RP-1659 | 10–1367 | CNGB3 | c.1148delC | p.T383Ifs*13 | known | [31] |
| (605080) | c.1666G>T | p.E556* | novel | |||
| RP-1174 | 04–0834 | CNGB3 | c.1148delC (homoz) | p.T383Ifs*13 | known | [31] |
| RP-0137 | 1601 | RP1 | c.1625C>G | p.S542* | novel | |
| (603937) | c.4804C>T | p.Q1602* | novel | |||
| RP-0235 | 2343 | RP1 | c.5173C>T (homoz) | p.Q1725* | novel | |
| RP-1116 | 06–1075 | NMNAT1 | c.507G>A | p.W169* | known | [47] |
| (608700) | c.769G>A | p.E257K | known | [47] |
Fig 1. Pedigrees of patients analyzed and mutations identified in this work.
The family ID is given above the pedigree, while the individuals’ IDs are indicated below the symbols depicting them. Red circles indicate individuals whose DNA underwent WES analysis. The name of the RD gene identified as causative of the disease is given in blue. M/M, homozygous mutation; M/m compound heterozygous mutations.
Reference
- 1.Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, et al. (2013) Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis. PLoS ONE 8(6): e65574 doi: 10.1371/journal.pone.0065574 [DOI] [PMC free article] [PubMed] [Google Scholar]

