米斯曼角膜营养不良（MECD）：两个家系报告及角膜特异性角蛋白12（KRT12）基因的一个新突变
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
作者信息
Nichini Olivia, Manzi Violaine d'Allèves, Munier Francis L, Schorderet Daniel F
机构信息
IRO-Institut de Recherche en Ophtalmologie, Sion, Switzerland.
出版信息
Ophthalmic Genet. 2005 Dec;26(4):169-73. doi: 10.1080/13816810500374391.
PURPOSE
Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3 or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 in KRT12. These genes were screened in several patients suffering from MECD.
METHODS
Patients from 2 families were screened for mutation in KRT3 and KRT12. Exons were PCR-amplified and directly sequenced. The new mutation was checked by DHPLC in 51 control individuals of Swiss origin.
RESULTS/CONCLUSIONS: In one family, the M129T heterozygous mutation was observed in KRT12. In the second family, we identified a novel I426S heterozygous mutation in exon 6 of KRT12.
目的
米斯曼角膜营养不良（MECD）是一种影响角膜上皮的常染色体显性疾病。它由KRT3或KRT12基因的杂合突变引起。实际上，已报道了14种突变，其中1种在KRT3基因，13种在KRT12基因。对多名患有MECD的患者进行了这些基因的筛查。
方法
对来自2个家族的患者进行KRT3和KRT12基因突变筛查。外显子通过PCR扩增并直接测序。在51名瑞士裔对照个体中通过变性高效液相色谱（DHPLC）检测新突变。
结果/结论：在一个家族中，在KRT12基因中观察到M129T杂合突变。在第二个家族中，我们在KRT12基因第6外显子中鉴定出一种新的I426S杂合突变。
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