Next Article in Journal
Genetic and Phenotypic Factors Affecting Glycemic Response to Metformin Therapy in Patients with Type 2 Diabetes Mellitus
Next Article in Special Issue
Common Single Nucleotide Polymorphism of TMPRSS6, an Iron Regulation Gene, Associated with Variable Red Blood Cell Indices in Deletional α-Globin Genotypes
Previous Article in Journal
Epigenetic Peripheral Biomarkers for Early Diagnosis of Alzheimer’s Disease
Previous Article in Special Issue
Quality of Life Scores Remained Different among the Genotypic Groups of Patients with Suspected Hemochromatosis, Even after Treatment Period
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 13
Issue 8
10.3390/genes13081309
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
Article
Peer-Review Record

IRIDA Phenotype in TMPRSS6 Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology

Genes 2022, 13(8), 1309; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13081309
by Vera Hoving 1, Scott E. Korman 2, Petros Antonopoulos 2, Albertine E. Donker 3, Saskia E. M. Schols 1,* and Dorine W. Swinkels 2,4
Reviewer 1:
Franco Musio
Reviewer 2: Anonymous
Reviewer 3:
Thomas Bartnikas
Genes 2022, 13(8), 1309; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13081309
Submission received: 24 June 2022 / Revised: 19 July 2022 / Accepted: 21 July 2022 / Published: 23 July 2022
(This article belongs to the Special Issue Genetic Research of Iron Homeostasis and Related Diseases)

Round 1

Reviewer 1 Report

Excellent paper - very thorough review with superb discussion.

Author Response

Please see the attachment.

Author Response File: Author Response.docx

Reviewer 2 Report

Hoving et al submitted a very interesting topic discussing the possible pathogenesis of a IRIDA patients with a monoallelic IRIDAm defined as a one affected TMPRSS6 allele. The topic is very interesting to the readers and authors have a good quality of presentation. However, I have some points that might help authors to make the content more scientific and significant. 

 

(1)   Although you have mentioned that this study was the largest for the monoallelic TMPRSS6 patients, I believe that the number of patients (16) was very low to clearly understand the pathophysiological mechanisms in IR-389 IDA patients with monoallelic exonic TMPRSS6 variants and might not be used as a reliable reflection of the monoallelic TMPRSS6 patients with IRIDA.

(2)   You have mentioned that most IRIDA patients harbored biallelic exonic TMPRSS6, but it is better to write the approximate percentage.

(3)   Lines71-73: This sentence “Integrating phenotypic and genotypic data of our case series, we explore theoretical possible pathophysiological mechanisms underlying phenotype expression in these TMPRSS6 monoallelic affected patients” needs to be revised to be grammatically sound good. 

(4)   Table S2: I would suggest using a different color (blue or red) rather than grey for the variants that are only found in patients. 

(5)   Tables 1 and 2: as the study is retrospective, it would be better if you can include more hematological parameters, such as HCT, MCH, and RBC count for all subjects.

(6)   Line 309: “In vitro” should be italic.

Author Response

Please see the attachment.

Author Response File: Author Response.docx

Reviewer 3 Report

Dear authors,

Thanks for the opportunity to review your submission. I have a few suggestions to improve the manuscript.

-Is the word 'suppletion' on line 145 of page 3 supposed to be 'supplementation'?

-This paper would be greatly strengthened if alterations in genes other than TMPRSS6 were investigated.

Author Response

Please see the attachment.

Author Response File: Author Response.docx

Back to TopTop