Reply to Fry, L.E.; MacLaren, R.E. 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".
- Resource Type
- Article
- Authors
- Di Giosaffatte, Niccolò; Grammatico, Paola; Bottillo, Irene
- Source
- Genes. Dec2023, Vol. 14 Issue 12, p2161. 3p.
- Subject
- *X chromosome
*CHOROIDEREMIA
*GENES
*DISEASE vectors
*FEMALES
- Language
- ISSN
- 2073-4425
This document is a reply to a comment on a previous paper about choroideremia, a genetic eye disorder. The authors address the concerns raised by the commenters and provide further explanation and evidence for their hypothesis. They discuss the potential partial escape from X chromosome inactivation (XCI) of the CHM gene and its effect on the severity of the disease in female carriers. They also address the dominant negative effect of a specific variant and its impact on the phenotype in both males and females. The authors suggest that further studies should be conducted to confirm their findings and explore potential genotype-phenotype correlations. [Extracted from the article]