弹性假黄瘤：ABCC6基因中的一种新型突变影响该疾病的眼部表现。
Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease.
作者信息
Hesse Richard J, Groetsch Joshua, Burshell Alan
出版信息
Ochsner J. 2010 Spring;10(1):13-5.
PURPOSE
To determine whether a correlation between ABCC6 mutations and ocular phenotypic expressions exists.
METHODS
In this study, 28 relatives of a consultand with known pseudoxanthoma elasticum were recruited for evaluation of the ocular manifestations of the disease, including peau d'orange appearance, angioid streaks, choroidal neovascular membranes, peripapillary atrophy, and retinal drusen. Comprehensive eye examinations were documented for all patients, who were then evaluated for the presence of known mutations in the aforementioned ABCC6 gene.
RESULTS
Statistically significant correlations were noted between the gene and peau d'orange appearance (P = 0.0016), angioid streaks (P < 0.0001), and choroidal neovascular membranes (P = 0.0016).
CONCLUSIONS
A statistically significant association was documented between the R39G mutation of the ABCC6 protein and 3 of 6 known manifestations of pseudoxanthoma elasticum. Although mutations of this gene are clearly associated with angioid streaks, the mechanism by which the transporter affects development of this pathology is speculative.
目的
确定ABCC6基因突变与眼部表型表达之间是否存在相关性。
方法
在本研究中，招募了一名已知患有弹性假黄瘤的咨询对象的28名亲属，以评估该疾病的眼部表现，包括橘皮样外观、血管样条纹、脉络膜新生血管膜、视乳头周围萎缩和视网膜玻璃膜疣。记录了所有患者的全面眼部检查情况，然后评估他们是否存在上述ABCC6基因的已知突变。
结果
在该基因与橘皮样外观（P = 0.0016）、血管样条纹（P < 0.0001）和脉络膜新生血管膜（P = 0.0016）之间发现了具有统计学意义的相关性。
结论
记录到ABCC6蛋白的R39G突变与弹性假黄瘤6种已知表现中的3种之间存在具有统计学意义的关联。虽然该基因的突变显然与血管样条纹有关，但转运蛋白影响这种病理状况发展的机制尚属推测。
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