Review for 10.1186/s12876-019-0987-z (2019)

Reviewer ’s report  
 
Title: Early screening the small bowel is key to protect Peutz -Jeghers Syndrome patients from 
surgery: a novel mutation c.243delG in STK11 gene  
 
Version: 0 Date: 13 Apr 2018  
 
Reviewer: Shirley V. Hodgson  
 
Reviewer's report:  
 
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This is a case report of a boy with isolated Peutz -Jegher syndrome and a novel germline muta tion 
in the STK11 gene. The report focuses on the novel mutation and the gastrointestinal 
complications, which the authors indicate the need for more intensive screening for young 
children with this condition. The Enhglish is very poor throughout and requi res extensive 
revision. Some examples include:  
"got abdomen cramps", "but not in his parents, which is not recorded in databases.", "diagnosis 
of PJS was affirmed", "endoscopy was applied", "A survey of STK11 gene", "large defection and 
missense  
17 mutatio n", etc.  
The mutation is reasonably described, but 50 unrelated controls is an extremely small number to 
test to see whether it occurs in the general population. The structure predition seems good 
although the picture of the reultant protein is much smalle r then the wild type protein. In the 
figures and the text there is no mention of the classical arborising histology seen in PJS polyps 
despite it being apparent in the histology slide shown.  
The comment that extensive surveillance would be recommended for children from the age of 4 -
5y is not sufficiently discussed in the context of the disadvanateges of such screening in young 
children, and the fact that the patient described in this paper was found to have symptomatic 
polyps from the age of 7y. Also it see ms worrying that one patient discussed from a quoted 
literature survey of 22 paediatric patients on surveillanve developed a post -Laparascopic -DBE 
pelvic  abscess. A more critical review of the pros and cons of such screening in childern would 
be appropria te. 
  
Are the methods appropriate and well described?  
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Yes 
 
Does the work include the necessary controls?  
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Unable to assess  
 
Are the conclusions drawn adequately supported by the data shown?  
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Yes 
 
Are you able to assess any statistics in the manuscript or would you recommend an  
additional statistical review?  
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assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of written English  
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Not suitable for publication unless extensively edited  
 
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