Review for 10.1186/s12876-015-0394-z (2015)

Reviewer ’s report  
 
Title: A de novo Whole Gene Deletion of XIAP Detected by Exome Sequencing Analysis in 
Very  Early Onset Inflammatory Bowel Disease: A Cas e Report  
 
Version: 0 Date: 21 Aug 2015  
 
Reviewer: Heather Hampel  
 
Reviewer ’s report:  
 
1. In the abstract change the word casual to causal.  
 
2. Throughout, use the acronym VEO -IBD not ju st VEO because that is not specific - i.e. 
very early onset what?  
 
2. Throughout, you cannot call this mutation "de novo" unless both parents are teste d and 
do not have the mutation.  It appears that only the mother tested negative which means 
that the fath er could still have this deletion.  It is important to prove that the mutation is de 
novo in order to ensure that the mutation is causal (i.e. if the dad has the same mutation 
and is healthy, then this is likely not causal as with the other sequence change  that was 
identified on WES which the mother carried.  
 
3. Are there any updates on the child's clinical course since the transplant?  
 
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
 
Yes 
 
Does the work include the necessary co ntrols?  
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, please explain in your comments to the authors.  
 
No 
 
Are you able to assess any statisti cs in the manuscript 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.  
 
Not relevant to this manuscript  
Qualit y of written English  
Please indicate the quality of language in the manuscript:  
 
Needs some language corrections before being published  
 
Declaration of competing interests  
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3. Do you hold or are you currently applying for any patents relating to the content o f the  
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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?  
 
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below.  If your reply is yes to any, please give details below.  
 
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