Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma
Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma
复制标题
中国青少年开角型青光眼家系中 Pro370Leu 肌纤蛋白突变
作者：
卓业鸿
目的研究一个中国人青少年型开角型青光眼（JOAG）家系（PN家系）的基因型和表型。方法由有经验的眼科医生对患者进行全面检查。记录家族性JOAG患者的临床特征。从PN家系的22例可用受试者中采集血样。进行连锁分析，以确定可能的染色体位点。通过聚合酶链反应扩增和随后的直接测序确定基因突变的存在。结果PN家系患者发病年龄早（平均17岁），临床表现严重，眼压高（平均34.18± 2.97mmHg），药物治疗效果差（87.5%的患者需行滤过手术）。连锁分析结果表明，该家系的1号染色体上存在D1 S3464和D1 S1619之间的区域。基因测序结果显示，该基因第3外显子第1,109位核苷酸发生杂合性C→T突变，导致Pro370 Leu突变。Pro370 Leu突变在PN家系的所有受累个体中共分离。结论GLC 1A Pro370 Leu突变与重度POAG表型密切相关。这些数据为Pro370 Leu等位基因的严重致病性质提供了线索。基因筛查可能是家族性开角型青光眼患者，特别是早发性开角型青光眼家系的症状前诊断和高危个体预警的有效方法。
Purpose To investigate the genotype and phenotype of juvenile-onset open angle glaucoma (JOAG) in a Chinese family (PN pedigree). Methods Each family member was comprehensively examined by an experienced ophthalmologist. The clinical characteristics of the family patients with JOAG were documented. Blood samples were obtained from 22 available participants from the PN pedigree. Linkage analysis was performed to identify the possible chromosome loci. The presence of gene mutation was ascertained by polymerase chain reaction amplification and subsequent direct sequencing. Results The affected members in the PN pedigree are characterized by early age of onset (mean age at diagnosis is 17 years old), severe clinical presentations, high intraocular pressure (mean IOP of 34.18±2.97 mmHg), and poor response to pharmacological treatment (87.5% of the patients required filtering surgery). The region on chromosome 1 between D1S3464 and D1S1619 was identified in this pedigree by linkage analysis. A Pro370Leu myocilin mutation resulting from a heterozygous C→T transition at the 1,109th nucleotide in exon 3 was detected by gene sequencing. The Pro370Leu mutation co-segregated among all affected individuals of PN pedigree. Conclusions The GLC1A Pro370Leu mutation is firmly correlated with a severe POAG phenotype. These data provide clues for the severe disease-causing nature of the Pro370Leu allele. Gene screening may be a useful method for pre-symptom diagnosis and a forewarning to detect the at-risk individuals in familial open-angle glaucoma patients, especially in pedigrees of early-onset.
登录
查看更多内容
影响因子：
56.9
作者：
Rezaie, T;Child, A;Sarfarazi, M
通讯作者：
Sarfarazi, M
影响因子：
2.2
作者：
Xin Zhao;Chao-Shan Yang;Y. Tong;Xiao-hui Zhang;Liang Xu;Yang Li-
通讯作者：
Xin Zhao;Chao-Shan Yang;Y. Tong;Xiao-hui Zhang;Liang Xu;Yang Li-
DOI：
10.3760/cma.j.issn.0412-4081.2009.07.009
发表时间：
2009-07
期刊：
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
影响因子：
--
作者：
Yan-tao Wei;Y. Zhuo;Yi-qing Li;Fang Chai;M. Lin;Y. Ling;J. Ge
通讯作者：
Yan-tao Wei;Y. Zhuo;Yi-qing Li;Fang Chai;M. Lin;Y. Ling;J. Ge
影响因子：
1.2
作者：
P. Puska;S. Lemmelä;P. Kristo;E. Sankila;I. Järvelä
通讯作者：
P. Puska;S. Lemmelä;P. Kristo;E. Sankila;I. Järvelä
中国青少年开角型青光眼大家族中 Pro370Leu MYOC 基因突变：基因型与表型的相关性
影响因子：
2.2
作者：
Bai, Yu-Jing;Ge, Jian;Wei, Yan-Tao;Zhuo, Ye-Hong;Saragovi, H. Uri;Duan, Shan;Lin, Ming-Kai
通讯作者：
Lin, Ming-Kai