CLINICAL FEATURES OF JAPANESE FAMILIES WITH A 402DELT OR A 555–556DELAG MUTATION IN CHOROIDEREMIA GENE
CLINICAL FEATURES OF JAPANESE FAMILIES WITH A 402DELT OR A 555–556DELAG MUTATION IN CHOROIDEREMIA GENE
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DOI：
10.1097/00006982-200412000-00015
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发表时间：
2004-12
期刊：
影响因子：
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通讯作者：
T. Itabashi;Y. Wada;M. Kawamura;Hajime Sato;M. Tamai
中科院分区：
文献类型：
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作者：
T. Itabashi;Y. Wada;M. Kawamura;Hajime Sato;M. Tamai
目的：描述与无脉络膜基因（CHM）402 delT和555- 556 delAG突变相关的两个日本无脉络膜家族的临床特征。方法：研究了来自两个日本无脉络膜症家系的四名受影响成员和一名专性携带者。为了检测CHM基因的突变，聚合酶链反应产物直接双向测序。眼科检查包括最佳矫正视力、裂隙灯检查、眼底检查、动态视野检查、视网膜电图和荧光素血管造影。结果：在两个日本无脉络膜症家系中发现一个402 delT和一个555- 556 delAG突变。所有受影响的成员有夜盲症，进行性收缩的视野，脉络膜视网膜萎缩，和斑驳外观的视网膜色素上皮细胞。专性携带者有轻度斑片状视网膜色素上皮萎缩，无视觉症状。结论：CHM基因存在402 delT和555- 556 delAG突变，其中402 delT为新突变。他们得出结论，这些突变导致日本家庭的无脉络膜症。
Purpose: 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. Conclusion: 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.