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Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".

In the article titled "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy" [1], there was an error in the variation in the NDP gene c.313G>C. Accordingly, "p.(Ala105Phe)" should be corrected to "p.(Ala105Pro)" in the Results and Discussion. Also, Table 1 and Figure 5 should be corrected as follows:


[1] G. Iarossi, M. Bertelli, P. E. Maltese et al., "Genotype-phenotype characterization of novel variants in six Italian patients with familial exudative vitreoretinopathy," Journal of Ophthalmology, vol. 2017, Article ID 3080245, 10 pages, 2017.

Giancarlo Iarossi, (1) Matteo Bertelli, (2) Paolo Enrico Maltese, (3) Elena Gusson, (4) Giorgio Marchini, (4) Alice Bruson, (3) Sabrina Benedetti, (3) Sabrina Volpetti, (5) Gino Catena, (1) Luca Buzzonetti, (1) and Lucia Ziccardi (6)

(1) Department of Ophthalmology, Bambino Gesu IRCCS Children's Hospital, Rome, Italy

(2) MAGI-Human Medical Genetics Institute, Bolzano, Italy

(3) MAGI-Human Medical Genetics Institute, Rovereto, Italy

(4) Eye Clinic, Department of Neurosciences, Biomedicine and Movement, University and AOUI (Azienda Ospedaliera Universitaria Integrata) of Verona, Verona, Italy

(5) Dipartimento Anestesia e Rianimazione Materno Infantile, Ospedale San Filippo Neri, Rome, Italy

(6) "G.B. Bietti" Foundation, IRCCS, Rome, Italy

Correspondence should be addressed to Paolo Enrico Maltese;

Received 14 September 2017; Accepted 4 October 2017; Published 30 November 2017

Caption: Figure 5: Pedigree and ocular features of family 5. Color fundus photographs by RetCam from the 3 y/o male proband (II:1) of family 5 showing a closed funnel total retinal detachment in the right eye and peripheral exudation with vascular abnormalities before and after laser treatment in the left eye. Fluorescein angiograms performed with RetCam before and after laser treatment showing peripheral ischemic areas with leakage mainly in temporal and inferior peripheral retina in the left eye. Top right, OCT macular scans from the proband's mother (I:2) showing normal retinal features. * Documented clinical evaluation; E+, positive to genetic test; RE, right eye; LE, left eye; LE*, images taken at a subsequent examination after the laser treatment.
Table 1: Features of genetic variations found in FEVR families.

Family ID Gene             Genotype   Nucleotide change

Fam. 1 FZD4 NM_012193      Het        c.277C>T
Fam. 2 FZD4 NM_012193      Het        c.542G>A
Fam. 3 FZD4 NM_012193      Het        c.611G>T
Fam. 4 NDP NM_000266       Hemi       c.362G>A
Fam. 5 NDP NM_000266       Hemi       c.313G>C
Fam. 6 TSPAN12 NM_012338   Het        c.67-2A>G

Family ID Gene             Amino acid change      SIFT     Polyphen

Fam. 1 FZD4 NM_012193      p.(Gln93*)             --       --
Fam. 2 FZD4 NM_012193      p.(Cys181Tyr)          T        PrD
Fam. 3 FZD4 NM_012193      p.(Cys204Phe)          D        PrD
Fam. 4 NDP NM_000266       p.(Arg121Gln)          D        PrD
Fam. 5 NDP NM_000266       p.(Ala105Pro)          D        PrD
Fam. 6 TSPAN12 NM_012338   Defective splicing     --       --

Family ID Gene             Mutation taster   Classification

Fam. 1 FZD4 NM_012193      --                Pathogenic
Fam. 2 FZD4 NM_012193      DC                Pathogenic
Fam. 3 FZD4 NM_012193      DC                Likely pathogenic
Fam. 4 NDP NM_000266       DC                Pathogenic
Fam. 5 NDP NM_000266       DC                Likely pathogenic
Fam. 6 TSPAN12 NM_012338   --                Likely pathogenic

Family ID Gene             References

Fam. 1 FZD4 NM_012193      Novel variant
Fam. 2 FZD4 NM_012193      [31]
Fam. 3 FZD4 NM_012193      Novel variant
Fam. 4 NDP NM_000266       [25]
Fam. 5 NDP NM_000266       Novel variant
Fam. 6 TSPAN12 NM_012338   Novel variant
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Title Annotation:Corrigendum
Author:Iarossi, Giancarlo; Bertelli, Matteo; Maltese, Paolo Enrico; Gusson, Elena; Marchini, Giorgio; Bruso
Publication:Journal of Ophthalmology
Article Type:Correction notice
Date:Jan 1, 2017
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