Title: A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers
syndrome
Version: 1 Date: 09 Nov 2022
Reviewer's report:
• This paper presents the first missense mutation of STK11 gene in c.521A > C, p.H174
• The images of the clinical findings and the radiologic images are satisfactory.
• In the introduction section, could you share the epidemiologic data on this condition in Chinese,
linked as in the title? Also all the mutations of STK11 in chinese
• In Line 186, "However, other researchers reported that there was no statistically significant
difference in the phenotype between patients who had PJS with truncating and missense variant
types", could you specify more about the reason for this statement?
• Is there any missense STK11 mutation of c.521A > C, p.H174 ever mentioned in any references
before?
•
Title: A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers
syndrome
Version: 1 Date: 09 Nov 2022
Reviewer's report:
• This paper presents the first missense mutation of STK11 gene in c.521A > C, p.H174
• The images of the clinical findings and the radiologic images are satisfactory.
• In the introduction section, could you share the epidemiologic data on this condition in Chinese,
linked as in the title? Also all the mutations of STK11 in chinese
• In Line 186, "However, other researchers reported that there was no statistically significant
difference in the phenotype between patients who had PJS with truncating and missense variant
types", could you specify more about the reason for this statement?
• Is there any missense STK11 mutation of c.521A > C, p.H174 ever mentioned in any references
before?
•
Please review this paper.
user
Title: A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers
syndrome
Version: 1 Date: 09 Nov 2022
Reviewer's report:
• This paper presents the first missense mutation of STK11 gene in c.521A > C, p.H174
• The images of the clinical findings and the radiologic images are satisfactory.
• In the introduction section, could you share the epidemiologic data on this condition in Chinese,
linked as in the title? Also all the mutations of STK11 in chinese
• In Line 186, "However, other researchers reported that there was no statistically significant
difference in the phenotype between patients who had PJS with truncating and missense variant
types", could you specify more about the reason for this statement?
• Is there any missense STK11 mutation of c.521A > C, p.H174 ever mentioned in any references
before?
•
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