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Case Report
Peer-Review Record

Could the BGN Gene Be Pathogenic with Spontaneous Coronary Artery Dissection (SCAD) and Fibromuscular Dysplasia (FMD)?

Cardiogenetics 2022, 12(4), 270-275; https://doi.org/10.3390/cardiogenetics12040026
Reviewer 1: Anonymous
Reviewer 2:
Cardiogenetics 2022, 12(4), 270-275; https://doi.org/10.3390/cardiogenetics12040026
Received: 11 August 2022 / Revised: 15 September 2022 / Accepted: 22 September 2022 / Published: 9 October 2022
(This article belongs to the Topic Biomarkers in Cardiovascular Disease—Chances and Risks)

Round 1

Reviewer 1 Report

Major Comments:

1. Variants in the BGN gene are associated with Meester-Loeys syndrome and Spondyloepimetaphyseal dysplasia, X-linked. Does your index have overlapping features? comment and discuss.

2. According to ACMG, the identified variant is VUS. Kindly mention and comment.

3. Write pathogenicity score of different online tools.

4. Protein 3D modeling should be performed before acceptance of the MS.

5. Write complete protocols and improve the material and methods part. Its incomplete information.

6. Write the article like a case report. This is not the proper structure to erte the case report. Where is the patient clinical description?

7. You need to add a detailed patient clinical evaluation.

8. Improve the discussion compare your patient phenotypes and mutation with the already reported disorders associated with BNG gene defect.

 

Author Response

Thank you so much for taking the time to review our case report.  I have made significant modifications as you will see on the attached file.  With respect to your comments:

1. Variants in the BGN gene are associated with Meester-Loeys syndrome and Spondyloepimetaphyseal dysplasia, X-linked. Does your index have overlapping features? comment and discuss.  I added this to the discussion.  There are no overlapping features.

2. According to ACMG, the identified variant is VUS. Kindly mention and comment. Done

3. Write pathogenicity score of different online tools. I am a clinical cardiologist and this concept is foreign to me.  I very much appreciate your recommendation but I do not think I can do this part justice so I have left it alone for now.

4. Protein 3D modeling should be performed before acceptance of the MS.  This is also something that is out of my scope and hopefully will not prevent the manuscript from being accepted.

5. Write complete protocols and improve the material and methods part. Its incomplete information. done

6. Write the article like a case report. This is not the proper structure to erte the case report. Where is the patient clinical description? major modifications made and this has been completed.

7. You need to add a detailed patient clinical evaluation. done

8. Improve the discussion compare your patient phenotypes and mutation with the already reported disorders associated with BNG gene defect. done

 

Thank you very much!  Jason Robin, MD, FACC 312 402 3972

Author Response File: Author Response.docx

Reviewer 2 Report

The authors reported a case of a 40-year-old woman with SCAD/FMD, and her biological mother who has a thoracic aortic aneurysm. A sequence analysis and deletion/duplication testing of a gene Invitae Aortopathy Comprehensive panel was analyzed for both the patient and her mother. The patient and her 22 mother were both noted to have a heterozygous mutation of the Biglycan (BGN) gene (Variant 23 c.1030T>G (p.Tyr344His)). The suggest a possible link between the BGN mutation and SCAD/FMD.

Although the two cases are well documented, the evidence for the possible link between the BGN mutation and SCAD/FMD is not obvious. Still, the hypotheses is interesting and novel.

Comments:

·        The list of genes included into the Invitae Aortopathy Comprehensive Panel should be included

·        More information about the gene, structure and function of BGN should be mentioned

·        Data on further clinical and laboratory parameters of the two patients (lipid values, concomitant disorders, and medication) should be mentioned

·        According to the results section, the UKB database was investigated looking at the BGN gene and its relationship to SCAD/FMD, but the results are not reported

·        The list of references seems to be incomplete

·        Affiliations are missing

Author Response

Thank you so much for taking the time to review our case report.  I have made significant modifications as you will see on the attached file.  With respect to your comments:

 

The list of genes included into the Invitae Aortopathy Comprehensive Panel should be included

  • More information about the gene, structure and function of BGN should be mentioned, Done
  • Data on further clinical and laboratory parameters of the two patients (lipid values, concomitant disorders, and medication) should be mentioned Done
  • According to the results section, the UKB database was investigated looking at the BGN gene and its relationship to SCAD/FMD, but the results are not reportedDone
  • The list of references seems to be incomplete Completed
  • Affiliations are missing Done

Author Response File: Author Response.docx

Round 2

Reviewer 1 Report

My previous comments not answered.

1. Write the pathogenicity score of different online tools.

Authors reply: I am a clinical cardiologist and this concept is foreign to me.  I very much appreciate your recommendation but I do not think I can do this part justice so I have left it alone for now. {Use Varsome.com}

 2. Protein 3D modeling should be performed before acceptance of the MS.

Authors reply: This is also something that is out of my scope and hopefully will not prevent the manuscript from being accepted.

Author Response

Thank you for your comments.  I did follow all of your previous suggestions and they have been incorporated into the manuscript.  I have also cleaned up the manuscript to make the point clear.  I have also corrected all spelling, grammar and changed the title.  Using Varsome.com was very helpful.  I have incorporated this into the manuscipt.  I greatly appreciate your guidance.

Author Response File: Author Response.docx

Reviewer 2 Report

Corrections have been done. Some editing may be required (list of examined genes in Methods section).

Author Response

I have modified the intro as well as the title.  I have also made spelling and grammatical corrections.  I sincerely appreciate your guidance.  Cheers and best wishes.  Jason Robin

Author Response File: Author Response.docx

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