Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I
Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I
复制标题
βig-h3基因Leu518Pro突变导致I型格子角膜营养不良
DOI：
10.1016/s0002-9394(99)00053-7
复制
发表时间：
1999
影响因子：
4.2
通讯作者：
A. Kanai
中科院分区：
文献类型：
--
作者：
S. Endo;N. T. Ha;K. Fujiki;Y. Hotta;K. Nakayasu;Tatsuo Yamaguchi;N. Ishida;A. Kanai
目的描述一个日本I型格子状角膜营养不良家系，该家系分离有一个新的βig-h3基因突变Leu 518 Pro。扩增βig-h3基因第12外显子，并进行分子生物学分析。该家系三代均确诊为格子状角膜营养不良，为常染色体显性遗传。我们发现了一个杂合子点突变，与疾病表型分离。结论β ig-h3基因的Leu 518 Pro突变虽然与Arg 124 Cys突变相比极为罕见，但也可引起I型格子状角膜营养不良。
PURPOSETo describe a Japanese family with lattice corneal dystrophy type I, which segregates with a novel mutation, Leu518Pro of the βig-h3 gene.METHODSDNA was extracted from leukocytes in four members (three affected and one unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 12 of the βig-h3 gene was amplified and analyzed with a molecular biologic method. Clinical data were also collected.RESULTSThree generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We found a heterozygous point mutation that segregates with the disease phenotype. It was a single base-pair transition (CTG to CCG, Leu to Pro).CONCLUSIONSAlthough it is extremely rare compared with the Arg124Cys mutation of the βig-h3 gene, Leu518Pro mutation of the βig-h3also causes lattice corneal dystrophy type I.