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


CONCLUSIONS
A novel (967-970+2)delAAAGGT mutation existed in the CHM gene of a Japanese family with choroideremia.
Iino
Yutaka
Y
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. yutaka@med.juntendo.ac.jp.
Fujimaki
Takuro
T
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
Fujiki
Keiko
K
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
Murakami
Akira
A
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D000368:Aged; D001483:Base Sequence; D015794:Choroideremia / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D020691:rab GTP-Binding Proteins / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D017931:DNA Primers; D020691:rab GTP-Binding Proteins
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