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Volume 12
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10.3390/genes12101512
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Article
Peer-Review Record

Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population

Genes 2021, 12(10), 1512; https://doi.org/10.3390/genes12101512
by Songshan Li †, You Wang †, Limei Sun, Wenjia Yan, Li Huang, Zhaotian Zhang, Ting Zhang and Xiaoyan Ding *
Reviewer 1: Anonymous
Reviewer 2: Anonymous
Reviewer 3: Anonymous
Genes 2021, 12(10), 1512; https://doi.org/10.3390/genes12101512
Submission received: 25 August 2021 / Revised: 22 September 2021 / Accepted: 22 September 2021 / Published: 26 September 2021
(This article belongs to the Section Genetic Diagnosis)

Round 1

Reviewer 1 Report

This paper details six patients with Knobloch Syndrome with information regarding the COL18A1 mutations carried by each.  The patients have undergone standard phenotyping and the authors present the results of this here. This work is very interesting and highlights the need for further research into the cause of KS, and the role of COL18A1 in this disease.

Some minor spelling/grammar errors highlighted below.

  1. Within the abstract 'Col18A1' is used when it should be 'COL18A1'. In the main body of the text there are a few other instances ie. line 42.
  2. Gene names should be in italics.
  3. Line 21 the word 'manifesta-tions' has a hyphen which it does not need.
  4. Line 56 has a '(reference)', this should be replaced with an appropriate reference.
  5. Line 178 'Since been first reported', should perhaps be since 'being' or 'it was' first reported.
  6. Line 51 'spec-tral' has a hyphen which should not be there

 

Author Response

Please see the attachment.

Author Response File: Author Response.pdf

Reviewer 2 Report

Authors give an overview of variants found in patients with autosomal recessive knobloch  syndrome. Overall the manuscript is well written and structured.

Few comments/suggestions: 

For non-opthamologists the ERG meausurement method and how to interpret these results would benefit some explaining.

 

Variant annotation is somewhat lacking. Please provide zygosity, cadd scores and provean output (that way nonsense and frameshift variants have annotation too). There are webinterfacescto do so. As KS is recessive either two or a homozygous variant has to be present (and interpretation of this posdible in the table)

 

What is the effect of the missense changes? Where do or do they not bind, does the protein fold differently? Is this a dominant negative effect or a gain of function effect?

 

Is there a difference in disease severity and can this be related to the type of changes?

Author Response

Please see the attachment.

Author Response File: Author Response.pdf

Reviewer 3 Report

Variant c.3364_3372delGGCCCCCCAinsC is not a splice variant, but a frameshift variant: COL18A1(NM_030582.4):c.3364_3372delGGCCCCCCAinsC (p.Gly1122ArgfsTer142)

Please indicate which COL18A1 transcript you are referring to (missing in Legends and main text).

Please indicate correctly Gene names COL18A1 and not Col18A1, and gene names all in italic (for example in Abstract)

English to be improved

Suppress hyphenation in text

Author Response

Please see the attachment.

Author Response File: Author Response.pdf

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