A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings

Purpose To investigate the choroideremia ( CHM ) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features. Methods We examined one affected man and one carrier woman from a Japanese family. Genomic DNA was extracted from leukocytes of peripheral blood collected from the affected man and his daughter, who is an obligate carrier of choroideremia. Exons 1–15 of the CHM g ene were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations including best-corrected visual acuity, slit-lamp examination, fundus examination, electroretinography, and Goldmann perimetry. Results A novel (967−970+2)delAAAGGT mutation was detected in the CHM gene. The affected man was hemizygous and had night-blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. His daughter was a heterozygous carrier who had chorioretinal atrophy and mottled appearance of the retinal pigment epithelium. Conclusion A novel (967−970+2)delAAAGGT mutation existed in the CHM gene of a Japanese family with choroideremia.