Reviewer's report
Title:A novel mutation within the lactase gene (LCT): the first case report of
congenital lactase deficiency diagnosed in Central Europe
Version:1Date:16 June 2015
Reviewer: Mamata Sivagnanam
Reviewer's report:
Minor Essential Revisions:
1. This manuscript would be enhanced by putting this mutation in the context of
other mutations. For example- are other mutations deletions, missense or
nonsense mutations? Is there any other deletion mutation leading to a premature
stop?
2. Please include Family history (other children affected?). Depending on the
nature of the consanguineous relation in the family/inclusion of a pedigree would
be of interest.
3. The authors state that biopsy testing should replaced by genetic testing. This
is a strong statement and should be qualified. Genetic testing AND clinical
improvement (including growth improvement) must take place for endoscopy to
be bypassed.
Discretionary Revisions
1. Line 134 gastroscopy should be esophagogastroduodenoscopy or at least
gastroduodenoscopy.
2. Line 146 add gastroenterologists
3. Line 113 Please define colics.
4. In addition to the genetics leading to easier diagnosis, it also aids in the ability
to guide the family with genetic counseling and for family planning. Addition of
these sentiments would improve the discussion.
Level of interest: An article of limited interest
Quality of written English: Acceptable
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 interest
Reviewer's report
Title:A novel mutation within the lactase gene (LCT): the first case report of
congenital lactase deficiency diagnosed in Central Europe
Version:1Date:16 June 2015
Reviewer: Mamata Sivagnanam
Reviewer's report:
Minor Essential Revisions:
1. This manuscript would be enhanced by putting this mutation in the context of
other mutations. For example- are other mutations deletions, missense or
nonsense mutations? Is there any other deletion mutation leading to a premature
stop?
2. Please include Family history (other children affected?). Depending on the
nature of the consanguineous relation in the family/inclusion of a pedigree would
be of interest.
3. The authors state that biopsy testing should replaced by genetic testing. This
is a strong statement and should be qualified. Genetic testing AND clinical
improvement (including growth improvement) must take place for endoscopy to
be bypassed.
Discretionary Revisions
1. Line 134 gastroscopy should be esophagogastroduodenoscopy or at least
gastroduodenoscopy.
2. Line 146 add gastroenterologists
3. Line 113 Please define colics.
4. In addition to the genetics leading to easier diagnosis, it also aids in the ability
to guide the family with genetic counseling and for family planning. Addition of
these sentiments would improve the discussion.
Level of interest: An article of limited interest
Quality of written English: Acceptable
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 interest
Please review this paper.
user
Reviewer's report
Title:A novel mutation within the lactase gene (LCT): the first case report of
congenital lactase deficiency diagnosed in Central Europe
Version:1Date:16 June 2015
Reviewer: Mamata Sivagnanam
Reviewer's report:
Minor Essential Revisions:
1. This manuscript would be enhanced by putting this mutation in the context of
other mutations. For example- are other mutations deletions, missense or
nonsense mutations? Is there any other deletion mutation leading to a premature
stop?
2. Please include Family history (other children affected?). Depending on the
nature of the consanguineous relation in the family/inclusion of a pedigree would
be of interest.
3. The authors state that biopsy testing should replaced by genetic testing. This
is a strong statement and should be qualified. Genetic testing AND clinical
improvement (including growth improvement) must take place for endoscopy to
be bypassed.
Discretionary Revisions
1. Line 134 gastroscopy should be esophagogastroduodenoscopy or at least
gastroduodenoscopy.
2. Line 146 add gastroenterologists
3. Line 113 Please define colics.
4. In addition to the genetics leading to easier diagnosis, it also aids in the ability
to guide the family with genetic counseling and for family planning. Addition of
these sentiments would improve the discussion.
Level of interest: An article of limited interest
Quality of written English: Acceptable
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 interest
assistant