Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13 , 1268.

The article discusses a recent publication that challenges the conventional understanding of the variable phenotype observed in female carriers of mutations in the CHM gene, which causes choroideremia in affected males. The authors propose that the variability in the severity of the phenotype may be due to the escape of X-inactivation of the CHM gene. However, further research is needed to support this hypothesis. The article emphasizes the need for more investigation into the possible escape expression of CHM from the inactivated X-chromosome in retinal tissue. [Extracted from the article]

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