Reviewer's report
Title:Three novel mutations in the lactase gene (LCT) underlying congenital
lactase deficiency (CLD)
Version: 1Date:27 July 2008
Reviewer: Songbin Fu
Reviewer's report:
In the manuscript of “Three novel mutations in the lactase gene (LCT) underlying
congenital lactase deficiency (CLD)”, the authors amplified and re-sequenced the
coding region of LCT in four CLD patients. By sequencing they identified three
novel mutations and predicted the function of these mutations by the
bioinformatics programs. It is an interesting paper and the main suggestions are
listed below:
Major compulsory revisions:
1. By sequencing, the authors found three novel mutations in four patients. In the
section of results, the authors pointed out that these mutations were not found in
the control subjects. However this was not listed in the methods, the authors
should introduce it in the methods.
2. Although the authors predicted the function of these mutations by
bioinformatics programs, it remained quite challenging to understand precisely
some statements in this paper. In addition, it is questionable if this functional
prediction was sufficiently compelling and novel. Importantly, I would strongly
suggest that the authors make a considerable effort to clean up the language,
such as the first paragraph in page 13. The authors should use shorter sentence
to express themselves effectively in the whole paper.
3. The mutations occurred in the upstream of LCT in the patients of the
adult-type hypolactasia mostly, I think the author should explain why they did not
sequence the upstream of LCT in the CLD patients.
Minor essential revisions
The table should be three-line formatted and the figure should be more attractive.
There are some errors in grammar usage throughout the manuscript. I urge the
authors to have it edited in detail by a native English speaker if at all possible.
Discretionary revisions
There should be more functional analysis about the three mutations in addition to
the prediction by the program.
The manuscript could be considered for publication after revision.
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Not suitable for publication unless extensively edited
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests
Reviewer's report
Title:Three novel mutations in the lactase gene (LCT) underlying congenital
lactase deficiency (CLD)
Version: 1Date:27 July 2008
Reviewer: Songbin Fu
Reviewer's report:
In the manuscript of “Three novel mutations in the lactase gene (LCT) underlying
congenital lactase deficiency (CLD)”, the authors amplified and re-sequenced the
coding region of LCT in four CLD patients. By sequencing they identified three
novel mutations and predicted the function of these mutations by the
bioinformatics programs. It is an interesting paper and the main suggestions are
listed below:
Major compulsory revisions:
1. By sequencing, the authors found three novel mutations in four patients. In the
section of results, the authors pointed out that these mutations were not found in
the control subjects. However this was not listed in the methods, the authors
should introduce it in the methods.
2. Although the authors predicted the function of these mutations by
bioinformatics programs, it remained quite challenging to understand precisely
some statements in this paper. In addition, it is questionable if this functional
prediction was sufficiently compelling and novel. Importantly, I would strongly
suggest that the authors make a considerable effort to clean up the language,
such as the first paragraph in page 13. The authors should use shorter sentence
to express themselves effectively in the whole paper.
3. The mutations occurred in the upstream of LCT in the patients of the
adult-type hypolactasia mostly, I think the author should explain why they did not
sequence the upstream of LCT in the CLD patients.
Minor essential revisions
The table should be three-line formatted and the figure should be more attractive.
There are some errors in grammar usage throughout the manuscript. I urge the
authors to have it edited in detail by a native English speaker if at all possible.
Discretionary revisions
There should be more functional analysis about the three mutations in addition to
the prediction by the program.
The manuscript could be considered for publication after revision.
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Not suitable for publication unless extensively edited
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests
Please review this paper.
user
Reviewer's report
Title:Three novel mutations in the lactase gene (LCT) underlying congenital
lactase deficiency (CLD)
Version: 1Date:27 July 2008
Reviewer: Songbin Fu
Reviewer's report:
In the manuscript of “Three novel mutations in the lactase gene (LCT) underlying
congenital lactase deficiency (CLD)”, the authors amplified and re-sequenced the
coding region of LCT in four CLD patients. By sequencing they identified three
novel mutations and predicted the function of these mutations by the
bioinformatics programs. It is an interesting paper and the main suggestions are
listed below:
Major compulsory revisions:
1. By sequencing, the authors found three novel mutations in four patients. In the
section of results, the authors pointed out that these mutations were not found in
the control subjects. However this was not listed in the methods, the authors
should introduce it in the methods.
2. Although the authors predicted the function of these mutations by
bioinformatics programs, it remained quite challenging to understand precisely
some statements in this paper. In addition, it is questionable if this functional
prediction was sufficiently compelling and novel. Importantly, I would strongly
suggest that the authors make a considerable effort to clean up the language,
such as the first paragraph in page 13. The authors should use shorter sentence
to express themselves effectively in the whole paper.
3. The mutations occurred in the upstream of LCT in the patients of the
adult-type hypolactasia mostly, I think the author should explain why they did not
sequence the upstream of LCT in the CLD patients.
Minor essential revisions
The table should be three-line formatted and the figure should be more attractive.
There are some errors in grammar usage throughout the manuscript. I urge the
authors to have it edited in detail by a native English speaker if at all possible.
Discretionary revisions
There should be more functional analysis about the three mutations in addition to
the prediction by the program.
The manuscript could be considered for publication after revision.
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Not suitable for publication unless extensively edited
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests
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