Review for 10.1186/s12876-020-01280-5 (2020)

Reviewer ’s report  
 
Title: Clinical and Molecular Characterization of a Patient with Mitochondrial 
Neurogastrointestinal  Encephalomyopathy  
 
Version: 0 Date: 12 Nov 2019  
 
Reviewer: Abdelhamid. Slama  
 
Reviewer's report:  
 
REVIEW  
 
BMGE -D-19-00773  
Characterization of a Novel Pathogenic Mutation Causing Mitochondrial 
Neurogastrointestinal Encephalopathy  
Parham Habibzadeh; M ohammad Silawi; Hassan Dastsooz; Shahrokh Ezzatzadegan Jahromi; 
VahidReza Ostovan; Majid Yavarian; Mohammad Mofatteh; Mohammad Ali Faghihi, M.D., 
Ph.D.  
The paper of Parham Habibzadeh and al reports on  a case of MNGIE patient, a 
mitochondrial pathology tha t predominantly presents with chronic intestinal signs (diarrhea, 
gastroparesis, recurrent vomiting, abdominal pain and bloating, pseudo -obstruction episodes) 
with associated neurological involvement (leukoencephalopathy, ophthalmoparesis, deafness, 
and de myelinating sensory motor peripheral neuropathy). These patients associete Thymidine 
phosphorylase defect and high accumulation of thymidine and deoxyuridine in blood and 
urine wich in turn alters mitochondrial DNA replication.  
This paper is well written e specially the clinical presentation of the case but some inaccuracy 
remaines to be clarified.  
 
*This mutation is not novel so it was reported in   
Gastroenterology. 2019 Apr; 156(5):1525 -1527.e4.  
MyoNeuroGastroIntestinal Encephalopathy: Natural History an d Means for Early Diagnosis.  
Corazza G1, Pagan C2, Hardy G1, Besson G1, Lombès A3; MNGIE project.  
see patient 9 -1 c.1013C &gt;A p.Ser338*/c.1160 -1G&gt;A splice mutation  
 
*Pathogenic marquers of MNGIE patients are reduced TP activity, high levels of thymidi ne 
and deoxyuridine and mitochondrial DNA deletion/depletion in muscle.  
 
The authors must therefore remove the notion of "novel" and "pathogenic" from the title 
since the mutation is already known and no biochemical marker has been made  
 
*Table1 and Figur e4 are not necessary for the comprehension of the text and can be removed  
 
In conclusion, I do not think the paper is publishable in its current form. It is possible and 
after correction to be published in the form of a letter for the description of the cl inical 
phenotype associated with this homozygous mutation.  
 
 
 
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 controls?  
If not, please specify which controls are required in your comments to the authors.  
 
No 
 
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 statistics in th e 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  
 
Quality of wri tten English  
Please indicate the quality of language in the manuscript:  
 
Acceptable  
 
Declaration of competing interests  
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6. Do you have any non -financial competing interests in relation to this paper?  
 
 
 
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