Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma
Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma
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MYOC单核苷酸多态性影响原发性开角型青光眼的严重程度
DOI：
10.3980/j.issn.2222-3959.2013.03.02
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发表时间：
2013-06-18
影响因子：
1.4
通讯作者：
Liu, Xu-Yang
中科院分区：
文献类型：
--
作者：
Zhou, Xiao-Min;Yin, Yan;Liu, Xu-Yang
目的：检测心肌素（MYOC）和细胞色素P450 1B1 （CYP1B1）两个候选基因在中国原发性开角型青光眼（POAG）家族中的突变。方法：该家庭由父母和女儿三口人组成。所有家庭成员都接受了完整的眼科检查。采用聚合酶链反应（PCR）和直接DNA测序的方法筛选MYOC和CYP1B1基因外显子的序列改变。结果：母亲为先证者，双眼均诊断为POAG。她的女儿被诊断为青少年型POAG。父亲没有症状。一个MYOC杂合突变c.1150外显子3的G >a （D384N）在母亲中被鉴定，另一个MYOC杂合变异为c.1058在父亲身上发现了外显子3中的c>t (T353I)，女儿继承了这两种变异。同时在家族中发现3个CYP1B1基因单核苷酸多态性（snp）。结论：MYOC的D384N突变已被报道为POAG的致病突变之一，而MYOC的T353I突变被认为是POAG的高危因素。MYOC的这两种变异首次在一名临床表现更为严重的少年型POAG患者中报道，提示MYOC的T353I多态性可能与POAG的严重程度有关。
AIM: To detect the mutations in two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese family with primary open angle glaucoma (POAG).METHODS: The family was composed of three members, the parents and a daughter. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 genes were screened for sequence alterations by polymerase chain reaction (PCR) and direct DNA sequencing.RESULTS: The mother was the proband, she was diagnosed as POAG in both eyes. Her daughter was diagnosed as juvenile-onset POAG. The father was asymptomatic. One MYOC heterozygous mutation c.1150 G>A (D384N) in exon 3 was identified in the mother, another MYOC heterozygous variation c.1058 C>T (T353I) in exon 3 was identified in the father, and the daughter inherited both of the variations. Meanwhile, three single nucleotide polymorphisms (SNPs) in CYP1B1 gene were found in the family.CONCLUSION: The D384N mutation of MYOC has been reported as one of disease-causing mutations in POAG, whereas T353I variation of MYOC was thought as a high risk factor for POAG. The two variations of MYOC were first reported in one juvenile-onset POAG patient who presented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG.