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] |
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]