M1S1基因的Q118X突变导致胶冻状滴状角膜营养不良：在一个患有胶冻状滴状角膜营养不良的家族中发现了BIGH3基因的P501T突变。
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.
作者信息
Ha N T, Fujiki K, Hotta Y, Nakayasu K, Kanai A
机构信息
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
出版信息
Am J Ophthalmol. 2000 Jul;130(1):119-20. doi: 10.1016/s0002-9394(00)00596-1.
PURPOSE
To analyze BIGH3 and M1S1 genes in two Japanese brothers with gelatinous drop-like corneal dystrophy and five unaffected family members.
METHODS
DNA was extracted, and each part of the two genes was amplified and directly sequenced.
RESULTS
On the BIGH3 gene, a heterozygous P501T mutation was found in the elder brother and three unaffected family members. On the M1S1 gene, both brothers with gelatinous drop-like corneal dystrophy showed a homozygous Q118X mutation, whereas all unaffected members were heterozygous.
CONCLUSIONS
The Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy. Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for lattice corneal dystrophy IIIA, no clinical feature was shown, even in the 85-year-old father. This fact shows that the P501T mutation for LCDIIIA has low penetrance.
目的
分析两名患有胶冻状滴状角膜营养不良的日本兄弟及其五名未受影响家庭成员的BIGH3和M1S1基因。
方法
提取DNA，对两个基因的各部分进行扩增并直接测序。
结果
在BIGH3基因上，在哥哥和三名未受影响的家庭成员中发现了杂合性P501T突变。在M1S1基因上，两名患有胶冻状滴状角膜营养不良的兄弟均显示纯合性Q118X突变，而所有未受影响的成员均为杂合子。
结论
M1S1基因的Q118X突变导致了胶冻状滴状角膜营养不良。尽管在该家系中发现的BIGH3基因的P501T突变正是报道的III型格子状角膜营养不良的突变，但即使是85岁的父亲也未表现出临床特征。这一事实表明，LCDIIIA的P501T突变具有低外显率。
Zotero 插件