A new mutation (A546T) of the βig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
A new mutation (A546T) of the βig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
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DOI：
10.1016/s0002-9394(99)00324-4
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发表时间：
2000-02-01
影响因子：
4.2
通讯作者：
Valleix, S
中科院分区：
文献类型：
--
作者：
Dighiero, P;Drunat, S;Valleix, S
目的：研究法国晶格状角膜营养不良型IIIA （LCDIIIA）家族中β - ig-h3基因缺陷的特征。方法：对2例患者的角膜按钮进行组织学检查。从白细胞中提取基因组DNA，用聚合酶链反应扩增β - ig-h3基因外显子，直接测序。结果：间质及Bowman膜下可见大量淀粉样蛋白沉积，具有淀粉样蛋白沉积的所有特征。外显子12的分析显示密码子546上有G到a的杂合过渡。结论：与日本患者相比，这些法国LCDIIIA患者携带明显的β ig-h3基因突变（A546T而不是P501T）。因此，目前尚不清楚不同的突变是否会导致相同的营养不良，或者我们是否在处理LCDIIIA的临床异质性。[J]中华眼科杂志2000；29(1):1 - 4。(C) 2000年由爱思唯尔科学公司版权所有)。
PURPOSE: To characterize the beta ig-h3 gene defect in a French family affected with lattice corneal dystrophy type IIIA (LCDIIIA).METHODS: Histologic examination was performed from corneal buttons of two patients. Genomic DNA was extracted from leukocytes, and exons of the beta ig-h3 gene were amplified by polymerase chain reaction to be directly sequenced.RESULTS: Numerous deposits were evident in the stroma and beneath the Bowman membrane, which had all the features of amyloid deposits. Analysis of exon 12 revealed a heterozygous G to A transition on codon 546.CONCLUSION: In contrast to Japanese patients, these French patients affected with LCDIIIA carry a distinct mutation of the beta ig-h3 gene (A546T instead of P501T). Therefore, it is unclear whether different mutations could result in the same dystrophy or whether we are dealing with clinical heterogeneity of LCDIIIA. (Am J Ophthalmol 2000;129:248-251. (C) 2000 by Elsevier Science Inc. All rights reserved.).