Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene.
OBJECTIVE
To characterize the clinical features of two Japanese families with choroideremia associated with a 402delT and a 555-556delAG mutation in the choroideremia gene (CHM).


METHODS
Four affected members and one obligate carrier from two Japanese families with choroideremia were studied. To detect mutations of the CHM gene, the products of polymerase chain reaction were directly sequenced in both directions. The ophthalmologic examination included best-corrected visual acuity, slit-lamp examination, fundus examination, kinetic perimetry, electroretinography, and fluorescein angiography.


RESULTS
A 402delT and a 555-556delAG mutation were found in two Japanese families with choroideremia. All affected members had night-blindness, progressive constriction of the visual field, chorioretinal atrophy, and mottled appearance of the retinal pigment epithelium. The obligate carrier had mild patchy areas of retinal pigment epithelial atrophy with no visual symptoms.


CONCLUSIONS
The authors found a 402delT and a 555-556delAG mutation in the CHM gene, one of which (402delT) is a novel mutation. They conclude that these mutations cause choroideremia in Japanese families.
Itabashi
Toshitaka
T
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. ita@oph.med.tohoku.ac.jp
Wada
Yuko
Y
Kawamura
Miyuki
M
Sato
Hajime
H
Tamai
Makoto
M
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D015794:Choroideremia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D017353:Gene Deletion; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009755:Night Blindness / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D010375:Pedigree; D020691:rab GTP-Binding Proteins / Q000235:genetics
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins