Review for 10.1186/1471-230X-12-141 (2012)

Reviewer's report
Title:Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: Prevalence
and SLC25A13 mutations among Thai Infants
Version: 1Date:27 June 2012
Reviewer: Ferdinando Palmieri
Reviewer's report:
The manuscript entitled, "Neonatal intrahepatic cholestasis caused by citrin
deficiency: prevalence and SLC25A13 mutations among Thai infants", by
Treepongkaruna et al. reports a study of 5 cases of NICCD and the estimated
prevalence of this disease in Thailand. The methods, results and conclusions are
sound, but the term “citrin” should be replaced with “AGC2” (which is the
acronym for aspartate/glutamate carrier isoform 2) (see Major Comments).
Furthermore, parts of the manuscript contain unclear English and typos of which
the most obvious ones are listed below. If these changes are dealt with, the
manuscript is recommended for publication.
Major Compulsory Revisions
1. The term “citrin” (which is meaningless) could only be justified before the
function of the protein encoded by SLC25A13, named “citrin”, was discovered.
This protein has been found to be the aspartate/glutamate carrier isoform 2,
abbreviated as AGC2. Therefore, the full functional name of this transporter or its
functionally based acronym AGC2 (aspartate/glutamate carrier isoform 2) should
be used instead of “citrin”.
2. Although the authors are rather fair in citing the previous literature, they have
forgotten to mention that the protein encoded by SLC25A13 has been found to
be the aspartate/glutamate carrier isoform 2, abbreviated as AGC2, and cite the
corresponding publication in this respect.
Minor Essential Revisions
1. Page 3, line 4 says "Specific disorders underlying INH including" should be
"Specific disorders are underlying INH, such as".
2. Page 3, line 13 says "PCR-sequencing for each of all 18 coding exons" should
be "PCR-sequencing of all 18 exons".
3. Page 3, line 13 says "exons of the SLC25A13 and gap" should be "exons of
the SLC25A13 gene and gap" or "exons of SLC25A13 and gap".
4. Page 3, line 14 says "mutations [XIX] (or IVS16ins3kb) and [XX]
(Ex16+74_IVS17-32del516) were performed" should be "mutations IVS16ins3kb
and Ex16+74_IVS17-32del516 were performed".
5. Page 3, lines 17-19 say "have NICCD with homozygous 851del4 (GTATdel) in
3 patients, and compound heterozygous 851del4/IVS16ins3kb and
851del4/1638ins23, each in a single patient" should be "have NICCD, of which
three had homozygous 851del4 (GTATdel) and two compound heterozygous
851del4/IVS16ins3kb and 851del4/1638ins23, respectively".
6. Page 3, line 21 says "patients had higher alkaline phosphatase (ALP) and
alpha-fetoprotein (AFP) and lower alanine aminotransferase (ALT) levels" should
be "patients had higher levels of alkaline phosphatase (ALP) and
alpha-fetoprotein (AFP) and lower levels of alanine aminotransferase (ALT)".
7. Page 4, line 1 says "Fatty change" should be explained or is "Fatty liver"
intended?
8. Page 4, lines 2-4 say "The prevalence of NICCD among Thai infants with
idiopathic infantile cholestasis was 12.8% and the 851del4 was the most
common mutation." This sentence should be deleted because it has already
been said on page 3, lines 17-19.
9. Page 6, lines 3-6 say "Specific disorders underlying INH including various
infections and metabolic causes such as tyrosinemia, alpha-1 antitrypsin
deficiency, and galactoseminia are increasingly being identified" should be "An
increase in specific disorders underlying INH are being identified, which include
various infections and metabolic causes such as tyrosinemia, alpha-1 antitrypsin
deficiency, and galactosemia".
10. Page 8, line 18 says "with primer sets SLC25A13_E9F&R followed" should
be "with primer SLC25A13_E9 forward and reverse (for all primers see Additional
file 1) followed".
11. Page 9, lines 15-16 say "PAA profiles" should be "Plasma amino acid (PAA)
profiles".
12. Page 12, line 4 says "pathogeneticity" should be "pathogenicity".
13. Page 12, line 13 says "When comparing to the" should be "When comparing
with the".
14. Page 13, line 4 says "Patient10" should be "Patient 10".
15. Table 1. Roman numerals indicating genetic variations should be put in a
separate column for clarity.
Level of interest: An article of importance in its field
Quality of written English: Needs some language corrections before being
published
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.