Literature DB >> 29333293

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

Giancarlo Iarossi1, Matteo Bertelli2, Paolo Enrico Maltese3, Elena Gusson4, Giorgio Marchini4, Alice Bruson3, Sabrina Benedetti3, Sabrina Volpetti5, Gino Catena1, Luca Buzzonetti1, Lucia Ziccardi6.   

Abstract

[This corrects the article DOI: 10.1155/2017/3080245.].

Entities:  

Year:  2017        PMID: 29333293      PMCID: PMC5733137          DOI: 10.1155/2017/7969364

Source DB:  PubMed          Journal:  J Ophthalmol        ISSN: 2090-004X            Impact factor:   1.909


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 1 should be corrected as follows:
Table 1

Features of genetic variations found in FEVR families.

Family IDGeneGenotypeNucleotide changeAmino acid changeSIFTPolyphenMutation tasterClassificationReferences
Fam. 1FZD4NM_012193Hetc.277C>Tp.(Gln93)PathogenicNovel variant
Fam. 2FZD4NM_012193Hetc.542G>Ap.(Cys181Tyr)TPrDDCPathogenic[31]
Fam. 3FZD4NM_012193Hetc.611G>Tp.(Cys204Phe)DPrDDCLikely pathogenicNovel variant
Fam. 4NDPNM_000266Hemic.362G>Ap.(Arg121Gln)DPrDDCPathogenic[25]
Fam. 5NDPNM_000266Hemic.313G>Cp.(Ala105Pro)DPrDDCLikely pathogenicNovel variant
Fam. 6TSPAN12NM_012338Hetc.67-2A>GDefective splicingLikely pathogenicNovel variant
Figure 1

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.

  1 in total

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

Authors:  Giancarlo Iarossi; Matteo Bertelli; Paolo Enrico Maltese; Elena Gusson; Giorgio Marchini; Alice Bruson; Sabrina Benedetti; Sabrina Volpetti; Gino Catena; Luca Buzzonetti; Lucia Ziccardi
Journal:  J Ophthalmol       Date:  2017-07-05       Impact factor: 1.909

  1 in total

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