Next Article in Journal
Association Between Genetically Predicted Memory and Self-Reported Foreign Language Proficiency
Previous Article in Journal
Comparative Transcriptome Analysis Elucidates the Desiccation Stress Adaptation in Sargassum muticum
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 16
Issue 5
10.3390/genes16050588
Review Report
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
Case Report
Peer-Review Record

Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation

Genes 2025, 16(5), 588; https://doi.org/10.3390/genes16050588
by Giovanni Luppino 1,†, Malgorzata Wasniewska 1,2,*,†, Mara Giordano 3,4, Giorgia Pepe 1,2, Letteria Anna Morabito 2, Debora Porri 1, Tommaso Aversa 1,2 and Domenico Corica 1,2
Reviewer 1:
Keren Xu
Reviewer 2:
Kinga Lis
Genes 2025, 16(5), 588; https://doi.org/10.3390/genes16050588
Submission received: 30 April 2025 / Revised: 13 May 2025 / Accepted: 13 May 2025 / Published: 17 May 2025
(This article belongs to the Section Human Genomics and Genetic Diseases)

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors
  • In section 2 case presentation, please describe the race/ethnicity of the patient.
  • Under the section genetic investigations and interpretations. Please describe the NGS analysis in details. What assay, and what bioinformatics pipeline was used to detect the genetic mutations.
  • in line 167, should add the full name of the ACGM abbreviation. In line 170, ACGM full name should not be included.
  • It might be useful to include the functional analyses or gene expression information of the four mutations in genes SIM1, SEMA3C, PLXNA4, and CREBBP.
  • please describe some potential limitations of your study in the discussion section.

< !-- notionvc: 5f2fbf8a-8ead-47f7-b7d6-6460d19a86e4 -->

Author Response

Please see the attachment

Author Response File: Author Response.pdf

Reviewer 2 Report

Comments and Suggestions for Authors

I have no significant comments on this manuscript. This is a typical case report. All the elements required for this type of publication have been maintained. The case is interesting. The research was conducted according to typical analytical-medical procedures. The discussion is well written. References to relevant literature sources have been made. Conclusions are logical and related to the described case. The format of the references does not comply with the MDPI guidelines and requires correction.

Author Response

Answers to the comments of the Reviewer.

 

We are very grateful to this Reviewer for the revision and opinion of our manuscript.

 

Comments:

 

I have no significant comments on this manuscript. This is a typical case report. All the elements required for this type of publication have been maintained. The case is interesting. The research was conducted according to typical analytical-medical procedures. The discussion is well written. References to relevant literature sources have been made. Conclusions are logical and related to the described case. The format of the references does not comply with the MDPI guidelines and requires correction.

 

Thanks to the reviewer for your opinion. We have corrected the format of the references according to MDPI guidelines.

Back to TopTop