De novo mutation in a choroideremia carrier.

Purpose: To describe a de novo gene mutation in a female patient with clinically characteristic findings of choroideremia (CHM).

Methods: Determination of best-corrected visual acuity, fundus examination, visual field analysis, and electroretinography were performed on a female patient with an advanced CHM phenotype. Blood samples were obtained from the patient and both her parents, and direct genomic sequencing for DNA analysis was performed on the blood samples.

Results: A single base-pair sequence change was identified in codon 293 in exon 7 (R293X) of the CHM gene in the proband. This mutation was not found to occur in her clinically unaffected parents.

Conclusion: These findings document that a de novo point mutation should be considered when an isolated female family member is found to have CHM.