Peer Review History
Original SubmissionNovember 7, 2022 |
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PONE-D-22-30538Rare CIDEC coding variants enriched in Age-related Macular Degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defectsPLOS ONE Dear Dr. Marion, Thank you for submitting your manuscript to PLOS ONE. After careful consideration, we feel that it has merit but does not fully meet PLOS ONE’s publication criteria as it currently stands. Therefore, we invite you to submit a revised version of the manuscript that addresses the points raised during the review process. In particular what was underlined by Reviewer 1. Please submit your revised manuscript by Feb 02 2023 11:59PM. If you will need more time than this to complete your revisions, please reply to this message or contact the journal office at plosone@plos.org. When you're ready to submit your revision, log on to https://www.editorialmanager.com/pone/ and select the 'Submissions Needing Revision' folder to locate your manuscript file. Please include the following items when submitting your revised manuscript:
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Or, if the data are not a core part of the research being presented in your study, we ask that you remove the phrase that refers to these data. [Note: HTML markup is below. Please do not edit.] Reviewers' comments: Reviewer's Responses to Questions Comments to the Author 1. Is the manuscript technically sound, and do the data support the conclusions? The manuscript must describe a technically sound piece of scientific research with data that supports the conclusions. Experiments must have been conducted rigorously, with appropriate controls, replication, and sample sizes. The conclusions must be drawn appropriately based on the data presented. Reviewer #1: Yes Reviewer #2: Yes ********** 2. Has the statistical analysis been performed appropriately and rigorously? Reviewer #1: Yes Reviewer #2: Yes ********** 3. Have the authors made all data underlying the findings in their manuscript fully available? The PLOS Data policy requires authors to make all data underlying the findings described in their manuscript fully available without restriction, with rare exception (please refer to the Data Availability Statement in the manuscript PDF file). The data should be provided as part of the manuscript or its supporting information, or deposited to a public repository. For example, in addition to summary statistics, the data points behind means, medians and variance measures should be available. If there are restrictions on publicly sharing data—e.g. participant privacy or use of data from a third party—those must be specified. Reviewer #1: Yes Reviewer #2: Yes ********** 4. Is the manuscript presented in an intelligible fashion and written in standard English? PLOS ONE does not copyedit accepted manuscripts, so the language in submitted articles must be clear, correct, and unambiguous. Any typographical or grammatical errors should be corrected at revision, so please note any specific errors here. Reviewer #1: Yes Reviewer #2: Yes ********** 5. Review Comments to the Author Please use the space provided to explain your answers to the questions above. You may also include additional comments for the author, including concerns about dual publication, research ethics, or publication ethics. (Please upload your review as an attachment if it exceeds 20,000 characters) Reviewer #1: The authors are invited to extend their analysis and to resubmit the article with a much larger sample that more robustly supports the association between the genetic variants and the clinical findings. Reviewer #2: The authors Kim et al. performed genome wide analysis to identify genetic determinants of low-luminance vision deficit in patients with age-related macular degeneration (AMD). They identified four coding variants in the CIDEC gene and carried out in vitro their functional characterization related to lipid metabolism. The results suggest the absence of their direct role in the eye. Major comments The authors definy the variants identified in the CIDEC gene as rare variants, without reporting their eventually known frequency in the population genetic studies (i.e. the gnomAD database could serve as useful reference of allelic frequency). The authors classified three of the four CIDEC variants as probably/possibly damaging using a single tool Polyphen to predict in silico possible impact of the aminoacid substitutions on the structure and function of the CIDEC protein. American College of Medical Genetics and Genomics (ACMG) developed the guidelines for the interpretation of sequence variants and Varsome represent a bioinformatic tool for variant classifications according to ACMG criteria. For example, your identified V47I varianti is classified as benign using Varsome, as likely benign in ClinVar database and the allele frequency in gnomAD is 0.001721. The criteria of variants classifications are important in their functional characterization because the authors don’t discuss why the results demonstrated the same decrease of dimerization capacity of V47I substitution predicted to be probably damaging and Y61H substitution predicted to be benign or the same reduced lipid exchange between two lipid droplet after transfection of the benign Y61H substitution or the possibly damaging V161M substitution. Finally, the authors conclude that the CIDEC variants do not play a direct role in the eye and influence low-luminance vision deficit via an indirect and systemic effect related to fat storage capacity. A recent paper (Balakrishnan et al., Diabetes. 2022 Oct 18:db220294. doi: 10.2337/db22-0294) described the CIDEC expression in human endothelial cells (ECs) regulating vascular function. Could be a new working hypothesis to explain the genetic molecular data in patients with AMD? ********** 6. PLOS authors have the option to publish the peer review history of their article (what does this mean?). If published, this will include your full peer review and any attached files. If you choose “no”, your identity will remain anonymous but your review may still be made public. Do you want your identity to be public for this peer review? For information about this choice, including consent withdrawal, please see our Privacy Policy. Reviewer #1: No Reviewer #2: No ********** [NOTE: If reviewer comments were submitted as an attachment file, they will be attached to this email and accessible via the submission site. Please log into your account, locate the manuscript record, and check for the action link "View Attachments". If this link does not appear, there are no attachment files.] While revising your submission, please upload your figure files to the Preflight Analysis and Conversion Engine (PACE) digital diagnostic tool, https://pacev2.apexcovantage.com/. PACE helps ensure that figures meet PLOS requirements. To use PACE, you must first register as a user. Registration is free. Then, login and navigate to the UPLOAD tab, where you will find detailed instructions on how to use the tool. If you encounter any issues or have any questions when using PACE, please email PLOS at figures@plos.org. Please note that Supporting Information files do not need this step. |
Revision 1 |
Rare CIDEC coding variants enriched in Age-related Macular Degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects PONE-D-22-30538R1 Dear Dr. Jeanne, We’re pleased to inform you that your manuscript has been judged scientifically suitable for publication and will be formally accepted for publication once it meets all outstanding technical requirements. Within one week, you’ll receive an e-mail detailing the required amendments. When these have been addressed, you’ll receive a formal acceptance letter and your manuscript will be scheduled for publication. An invoice for payment will follow shortly after the formal acceptance. To ensure an efficient process, please log into Editorial Manager at http://www.editorialmanager.com/pone/, click the 'Update My Information' link at the top of the page, and double check that your user information is up-to-date. If you have any billing related questions, please contact our Author Billing department directly at authorbilling@plos.org. If your institution or institutions have a press office, please notify them about your upcoming paper to help maximize its impact. If they’ll be preparing press materials, please inform our press team as soon as possible -- no later than 48 hours after receiving the formal acceptance. Your manuscript will remain under strict press embargo until 2 pm Eastern Time on the date of publication. For more information, please contact onepress@plos.org. Kind regards, Giuseppe Novelli Academic Editor PLOS ONE Additional Editor Comments (optional): Reviewers' comments: |
Formally Accepted |
PONE-D-22-30538R1 Rare CIDEC coding variants enriched in Age-related Macular Degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects Dear Dr. Jeanne: I'm pleased to inform you that your manuscript has been deemed suitable for publication in PLOS ONE. Congratulations! Your manuscript is now with our production department. If your institution or institutions have a press office, please let them know about your upcoming paper now to help maximize its impact. If they'll be preparing press materials, please inform our press team within the next 48 hours. Your manuscript will remain under strict press embargo until 2 pm Eastern Time on the date of publication. For more information please contact onepress@plos.org. If we can help with anything else, please email us at plosone@plos.org. Thank you for submitting your work to PLOS ONE and supporting open access. Kind regards, PLOS ONE Editorial Office Staff on behalf of Prof. Giuseppe Novelli Academic Editor PLOS ONE |
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