Reviewer's report
Title:Compound heterozygous Mutations elicit Congenital Lactase Deficiency in
a Japanese Infant
Version:2Date:22 January 2015
Reviewer: Irma Järvelä
Reviewer's report:
I am pleased to read that functional studies have been performed
for mutations underlying CLD by Lena Diekmann, Katrin Pfeiffer and Hassan Y.
Naim.
The functional studies were performed using the published truncating
mutations from Japan. The cell biological methods used are sound.
The authors show that both mutations cannot exit from ER.
Another important finding was that there exists no interaction between
a wild type LPH monomer and a mutant LPH inside the cell. The authors
mention that the enzymatic activities of LPH did not change in co-transfected
experiments.
It would be useful to mention the retained activities here.
This result is in agreement with clinical data, ie. heterozygous carriers do not
express the disease.
- Major Compulsory Revisions
No.
- Minor Essential Revisions
The authors may have noticed that a new mutation, a duplication in exon 17 of
the LCT
(c.2232 2253dup22 ) (p.L752KfsX18) was identified in a homozygous form
published by Sala Coromina J, et al. Déficit congénito de lactasa: identificación
de una nueva mutación. An Pediatr (Barc) in 2014. This data has to be added to
the paper.
- Discretionary Revisions
No.
Level of interest: An article whose findings are important to those with closely
related research interests
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 interests.
Reviewer's report
Title:Compound heterozygous Mutations elicit Congenital Lactase Deficiency in
a Japanese Infant
Version:2Date:22 January 2015
Reviewer: Irma Järvelä
Reviewer's report:
I am pleased to read that functional studies have been performed
for mutations underlying CLD by Lena Diekmann, Katrin Pfeiffer and Hassan Y.
Naim.
The functional studies were performed using the published truncating
mutations from Japan. The cell biological methods used are sound.
The authors show that both mutations cannot exit from ER.
Another important finding was that there exists no interaction between
a wild type LPH monomer and a mutant LPH inside the cell. The authors
mention that the enzymatic activities of LPH did not change in co-transfected
experiments.
It would be useful to mention the retained activities here.
This result is in agreement with clinical data, ie. heterozygous carriers do not
express the disease.
- Major Compulsory Revisions
No.
- Minor Essential Revisions
The authors may have noticed that a new mutation, a duplication in exon 17 of
the LCT
(c.2232 2253dup22 ) (p.L752KfsX18) was identified in a homozygous form
published by Sala Coromina J, et al. Déficit congénito de lactasa: identificación
de una nueva mutación. An Pediatr (Barc) in 2014. This data has to be added to
the paper.
- Discretionary Revisions
No.
Level of interest: An article whose findings are important to those with closely
related research interests
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 interests.
Please review this paper.
user
Reviewer's report
Title:Compound heterozygous Mutations elicit Congenital Lactase Deficiency in
a Japanese Infant
Version:2Date:22 January 2015
Reviewer: Irma Järvelä
Reviewer's report:
I am pleased to read that functional studies have been performed
for mutations underlying CLD by Lena Diekmann, Katrin Pfeiffer and Hassan Y.
Naim.
The functional studies were performed using the published truncating
mutations from Japan. The cell biological methods used are sound.
The authors show that both mutations cannot exit from ER.
Another important finding was that there exists no interaction between
a wild type LPH monomer and a mutant LPH inside the cell. The authors
mention that the enzymatic activities of LPH did not change in co-transfected
experiments.
It would be useful to mention the retained activities here.
This result is in agreement with clinical data, ie. heterozygous carriers do not
express the disease.
- Major Compulsory Revisions
No.
- Minor Essential Revisions
The authors may have noticed that a new mutation, a duplication in exon 17 of
the LCT
(c.2232 2253dup22 ) (p.L752KfsX18) was identified in a homozygous form
published by Sala Coromina J, et al. Déficit congénito de lactasa: identificación
de una nueva mutación. An Pediatr (Barc) in 2014. This data has to be added to
the paper.
- Discretionary Revisions
No.
Level of interest: An article whose findings are important to those with closely
related research interests
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 interests.
assistant