Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0)
Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0)
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DOI：
10.1136/bjo.84.12.1376
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发表时间：
2000-12-01
影响因子：
4.1
通讯作者：
Moore, A
中科院分区：
文献类型：
--
作者：
Francis, P;Berry, V;Moore, A
背景-先天性白内障，当作为一个孤立的异常遗传，是表型和遗传异质性。虽然没有一致的命名观察到的白内障的模式，最近的一项研究确定了八个容易识别的phenotypes. Methods的Moorfields眼科医院遗传眼科诊所数据库被用来确定一个四代家庭孤立的常染色体显性遗传性先天性白内障。所有个人（受影响和未受影响）进行了全面的眼科assessment.Results-The鉴定的错义突变的基因编码的主要内在蛋白的透镜（MIP）的分子连锁研究的结果已发表在别处。受影响的个体有双侧离散的进行性点状透镜混浊，局限于中间和周边椎板，伴有额外的不对称极性混浊。一个年轻的女性主要是皮质性白内障，另一个有匍匐核opacities.Conclusions-This表型尚未记录在人类家庭之前，已被称为多态性。混浊的模式似乎反映了MIP在透镜中的分布。此外，这是第一个明确的证据等位基因异质性在这种情况下，确定了一个家庭与层状白内障谁有不同的突变内MIP基因。
Background-Congenital cataract, when inherited as an isolated abnormality, is phenotypically and genetically heterogeneous. Although there is no agreed nomenclature for the patterns of cataract observed, a recent study identified eight readily identifiable phenotypes.Methods-The Moorfields Eye Hospital genetic eye clinic database was used to identify a four generation family with isolated autosomal dominant congenital cataracts. All individuals (affected and unaffected) underwent a full ophthalmic assessment.Results-The results of the molecular linkage study identifying a missense mutation in the gene encoding the major intrinsic protein of the lens (MIP) have been published elsewhere. Affected individuals had bilateral discrete progressive punctate lens opacities limited to mid and peripheral lamellae with additional asymmetric polar opacification. One young female had predominantly cortical cataract and another had serpiginous nuclear opacities.Conclusions-This phenotype has not been recorded in human families before and has been termed polymorphic. The pattern of opacification appears to reflect the distribution of MIP in the lens. Furthermore, this is the first clear evidence of allelic heterogeneity in this condition following the identification of a family with lamellar cataracts who have a different mutation within the MIP gene.