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: 27 Aug 2015  
 
Reviewer: Murugu  Manickam  
 
Reviewer ’s report:  
 
Interesting single case of XIAP induced inflammatory bowel disease. The mechanism is not 
previously reported though mutations in XIAP are known to be assoc iated with early -onset 
disease.  
 
It might be overstated to say that exome testing is the most effici ent method though for genetic 
diagnosis. If there is a finite number of genes associated (20 -30 even) there are customizable 
panels available to cover the genes of interest. This would allow deeper coverage of genes of 
interest (versus whole exome) and cou ld potentially include immediate CNV coverage. Results 
would also be quicker if there are fewer va riants of unknown significance.  
 
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.  
 
Yes 
 
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:  
 
Acceptable  
 
Declaration of competing interests  
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