Reviewer's report
Title:Truncating mutations in the Wilson disease gene ATP7B are associated
with very low serum ceruloplasmin oxidase activity and an early onset of Wilson
disease
Version: 1Date:17 November 2009
Reviewer: eapen eapen
Reviewer's report:
Reviewer's report
-----------------
This article reads well and adds to the information correlating Wilson’s disease
(WD) genotype with phenotype. I have the following suggestions:
- Major Compulsory Revisions: None
- Minor Essential Revisions: None
- Discretionary Revisions
1. Splice site mutations have been categorised as severe mutations in this study,
the authors may wish to elaborate why this was done (splice site mutations are
known to cause mild mutations and mild phenotypic disease).
The serum ceruloplasmin level and activity and age of onset of disease in the
patient(s) with splice site mutation maybe mentioned separately.
2. Was the serum ceruloplasmin assay done at the time of first presentation with
WD ?
3. Were all WD patients symptomatic ?
4. If data is available, correlation between genotype and serum free copper levels
maybe looked at.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: Yes, but I do not feel adequately qualified to assess the
statistics.
Declaration of competing interests:
'I declare that I have no competing interests'
Reviewer's report
Title:Truncating mutations in the Wilson disease gene ATP7B are associated
with very low serum ceruloplasmin oxidase activity and an early onset of Wilson
disease
Version: 1Date:17 November 2009
Reviewer: eapen eapen
Reviewer's report:
Reviewer's report
-----------------
This article reads well and adds to the information correlating Wilson’s disease
(WD) genotype with phenotype. I have the following suggestions:
- Major Compulsory Revisions: None
- Minor Essential Revisions: None
- Discretionary Revisions
1. Splice site mutations have been categorised as severe mutations in this study,
the authors may wish to elaborate why this was done (splice site mutations are
known to cause mild mutations and mild phenotypic disease).
The serum ceruloplasmin level and activity and age of onset of disease in the
patient(s) with splice site mutation maybe mentioned separately.
2. Was the serum ceruloplasmin assay done at the time of first presentation with
WD ?
3. Were all WD patients symptomatic ?
4. If data is available, correlation between genotype and serum free copper levels
maybe looked at.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: Yes, but I do not feel adequately qualified to assess the
statistics.
Declaration of competing interests:
'I declare that I have no competing interests'
Please review this paper.
user
Reviewer's report
Title:Truncating mutations in the Wilson disease gene ATP7B are associated
with very low serum ceruloplasmin oxidase activity and an early onset of Wilson
disease
Version: 1Date:17 November 2009
Reviewer: eapen eapen
Reviewer's report:
Reviewer's report
-----------------
This article reads well and adds to the information correlating Wilson’s disease
(WD) genotype with phenotype. I have the following suggestions:
- Major Compulsory Revisions: None
- Minor Essential Revisions: None
- Discretionary Revisions
1. Splice site mutations have been categorised as severe mutations in this study,
the authors may wish to elaborate why this was done (splice site mutations are
known to cause mild mutations and mild phenotypic disease).
The serum ceruloplasmin level and activity and age of onset of disease in the
patient(s) with splice site mutation maybe mentioned separately.
2. Was the serum ceruloplasmin assay done at the time of first presentation with
WD ?
3. Were all WD patients symptomatic ?
4. If data is available, correlation between genotype and serum free copper levels
maybe looked at.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: Yes, but I do not feel adequately qualified to assess the
statistics.
Declaration of competing interests:
'I declare that I have no competing interests'
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