Does whole-exome sequencing reveal a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa?
We report a novel CHM mutation, c.1475_1476insCA, identified by whole-exome sequencing in a family with X-linked CHM initially diagnosed as RP. Our findings emphasize the value of a diagnostic approach that associates genetic and ophthalmologic data to facilitate the proper clinical diagnosis of rare hereditary retinal diseases such as CHM.
The results suggest that in addition to its role in homologous recombination, RPA may also have a supportive role in some forms of non-homologous end-joining.