Peer-Review Record
Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants
Genes 2021, 12(11), 1785; https://doi.org/10.3390/genes12111785
by
Sarah C. Grünert 1,*
, Anke Schumann 1, Federico Baronio 2, Konstantinos Tsiakas 3, Simona Murko 3, Ute Spiekerkoetter 1 and René Santer 3
, Anke Schumann 1, Federico Baronio 2, Konstantinos Tsiakas 3, Simona Murko 3, Ute Spiekerkoetter 1 and René Santer 3Reviewer 1:
Anonymous
Reviewer 2:
Anonymous
Genes 2021, 12(11), 1785; https://doi.org/10.3390/genes12111785
Submission received: 17 October 2021
/
Accepted: 4 November 2021
/
Published: 10 November 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
Round 1
Reviewer 1 Report
Dr Grünert and colleagues are reporting on genotype-phenotype correlations in patients with pathogenic GLUT2 variants. This report comes from one of the major groups involved in research for Fanconi Bickel syndrome, with focus on 5 (out of 93) patients with mild clinical course. The papaer is well written, clear and concise.
The conclusion provides evidence for a continuous spectrum in patients with GLUT2 variants, ranging from typical FBS syndrome to milder manifestations, even isolated glucosuria.
I have neither specific remarks nor questions
Reviewer 2 Report
The genotype-phenotype correlation is very interesting and the presentation of the cases illustrates the point. Your article was easy to read.
