Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma
, Rocío Garrido-Moraga 3,†, Sara I. Palencia-Pérez 4, Ángela Hernández-Martín 5, Jon Sánchez-Munárriz 1, José M. Lezana-Rosales 6,7, Juan F. Quesada-Espinosa 6,7, Miguel A. Martín 2,3,6,7,* and Ana Arteche-López 6,7
Round 1
Reviewer 1 Report
This study is well designed describes a novel PERP variant in a patient with hPPK
The strengths of this study include segregation analysis (sanger traces provided), interrogation of local reference datasets and functional analysis.
The pLI is more than 0.9 indicating the protein is extremely intolerant to truncating variants.
The study is well referenced.
Author Response
Thank you very much for your consideration and comments on our manuscript.
Reviewer 2 Report
I thank the academic editor for the possibility to review this interesting manuscript titled “ Integration of phenotype term prioritization and gene expression analysis reveals a novel variant in the PERP gene associated with autosomal recessive erythrokeratoderma “, in which the authors describe the discovery of a new mutation in the PERP gene in the disease called Hereditary Palmoplantar Keratoderma (PPK). I think that the paper is well written and interesting about this new acquisition; so, I think that introduction, material and methods, results and the discussion are written in an exhaustive and sufficient way, with the details of the Whole Exome Sequencing that prove the author’s statements. Also discussion section is clear and well organised, with some parts that analyse the current state of the art about PPK.
I suggest to the authors only to improve English language and reduce the presence of typos.
Moderate change
Author Response
Thank you very much for your consideration and comments on our manuscript. We have conducted a thorough revision to address the language errors and typos in English.
