Review for 10.1186/s12876-020-01192-4 (2020)

Reviewer ’s report  
 
Title: A Case Report of a novel 22 bp duplication within exo n 1 of the UGT1A1 in a Sudanese 
infant with Crigler -Najja r Syndrome type I  
 
Version: 0 Date: 17 Oct 2019  
 
Reviewer: Shin'Ichi Ikushiro  
 
Reviewer's report:  
General comment:  
This article described the novel genotype of UDP -glucuronosyltransferase family 1A1 gene ( 
UGT1A1 ) with Crigler -Najjar syndrome type I (CN -I)  in Sudanese patient. Mutat ions of 
UGT1A1 cause the hereditary unconjugated hyperbilirubinemias (CN -I, CN -I, and GS). Because 
significantly high concentration of unconjugated bilirubin in serum at neonatal period results in 
the bilirubin encephalopathy (kernicterus), it is important  for the treatment to diagnose the type 
of these syndromes in the early stage. Previous investigations by the authors indicated that serum 
bilirubin concentration of the patients changes due to combination of the mutations and 
polymorphisms. In this study,  the authors analyzed the novel genotype of UDP -
glucuronosyltransferase family 1A1 gene ( UGT1A1 ) with Crigler -Najjar syndrome type I (CN -
I)  in Sudanese patient , indicating that novel homozygous 22 base pair duplication (c.55_76dup) 
in the coding exon 1  of the UGT1A1 gene. This 22 bp duplication causes a frame shift leading to 
a premature stop codon.  
 
Specific minor comment:  
Please show the concentrations of unconjugated and conjugated bilirubin in serum after the 
transplant if possible.  
 
 
Are the methods appropriate and well described?  
If not, please specify what is re quired in your comments to the authors.  
 
Yes 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
Yes 
 
Are the conclusions drawn adequately supported by the data shown?  
If not, plea se explain in your comments to the authors.  
 
Yes 
 
Are you able to assess any statistics in the manus cript or would you recommend an 
additional statistical review?  
If an additional statistical review is recommended, please specify what aspects require further  
assessment in your comments to the editors.  
 
I am able to assess the statistics  
 
Quality of written English  
Please indicate the quality of language in the manuscript:  
 
Not suitable for publication unless extensively edited  
 
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, f ees, funding, or salary from an 
organisation that may in any way gain or lose financially from the publicat ion of this 
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation t hat may in any way gain or lose 
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you current ly applying for any patents  relating to the content of the 
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any ot her financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have  no competing interests' 
below. If your reply is yes to any, please giv e details below.  
 
I declare that I have no competing interests.  
 
 
 
 
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