Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains
, Jung Ah Kim 1,†, Jee Eun Yoo 3, Da Hye Kim 3, Se Jin Kim 1, Seung Hyun Jang 1, Seyoung Yu 1, Hye-Youn Kim 1, Jae Young Choi 3, Heon Yung Gee 1,* and Jinsei Jung 3,*Round 1
Reviewer 1 Report
The paper "Clinical heterogeneity associated with MYO7A variants relies on
affected domains" provides new information on the MYO7A gene. Some new mutations are reported as well as audiological data that add useful help to the genotype-phenotype correlation. The paper is very clear
Author Response
We thank the reviewer for constructive comments
Reviewer 2 Report
In this manuscript, the authors performed whole exome sequencing on 300 Korean families. They report for the first time the incidence rates of DFNA11 for a Korean population. They also report two novel and likely pathogenic DFNA11 variants in the MyTHR4 domain of MYO7A. Overall, the manuscript is written well. The methodology and results are presented clearly. The conclusions are supported by the data presented. I have no major critiques.
Author Response
We thank the reviewer for constructive comments.
