Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam M F, Garchon H J, Pitts Crick R, Sarfarazi M
Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington 06030-1110, USA.
J Med Genet. 1998 Dec;35(12):989-92. doi: 10.1136/jmg.35.12.989.
Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal chromosomes. In another Turkish family with JOAG, we also detected a sequence variant that was proven to be an amino acid polymorphism (Arg76Lys). No other sequence changes were found in the entire coding region and splice junctions of the TIGR/MYOC gene in this family. However, it is still possible that mutations either in the TIGR promoter or in another neighbouring gene could cause glaucoma in this JOAG family. Our results confirm the role of the TIGR/MYOC gene in the aetiology of the JOAG phenotype.
小梁网诱导糖皮质激素反应蛋白（TIGR）或肌纤蛋白（MYOC）的突变最近已被证明会导致青少年型原发性开角型青光眼（JOAG）。在本研究中，我们在两个英国家族中鉴定出两个新突变（Asp380Ala和Ser502Pro），在一个法裔加拿大家族中鉴定出另一个突变（Pro370Leu）。在总共106条正常染色体中未发现这些突变。在另一个患有JOAG的土尔其家族中，我们还检测到一个序列变异，经证实是一种氨基酸多态性（Arg76Lys）。在这个家族的TIGR/MYOC基因的整个编码区和剪接连接处未发现其他序列变化。然而，TIGR启动子或另一个相邻基因中的突变仍有可能导致这个JOAG家族患青光眼。我们的结果证实了TIGR/MYOC基因在JOAG表型病因学中的作用。
