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. 2016 Mar 31;11(3):e0153121. doi: 10.1371/journal.pone.0153121

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Corton, Koji M Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D Tatu, Carmen Ayuso, Carlo Rivolta
PMCID: PMC4816403  PMID: 27031522

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.

Fig 1

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


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