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Genotype - phenotype analysis in Peters' anomaly patients with PITX2 and PAX6 genes
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- Author:
- No author available
- Journal Title:
- International Eye Science
- Issue:
- 12
- DOI:
- 10.3980/j.issn.1672-5123.2019.12.28
- Key Word:
- Peters异常;Axenfeld-Rieger综合征;PITX2基因;PAX6基因;突变
Abstract： 目的:分析中国人Peters异常(PA)患者的临床特征,研究Peters异常患者PITX2及PAX6基因变异情况.方法:选取2016/2019年在常州市第二人民医院及第三人民医院眼科就诊的15例Peters异常患者,并收集详细的相关临床资料.征得患者及其家系成员的同意后抽血制备基因组DNA,用聚合酶链反应(PCR)对致病基因PITX2及PAX6的编码区及其临接内含子进行扩增后,直接测序筛查中国人群Peters异常患者PITX2及PAX6基因变异,异源双链-单链构象多态性分析(HA-SSCP)的方法对突变患者及其家系成员及80例正常对照进行验证;分析比较国内已报道的Peters异常患者PITX2及PAX6基因突变并研究其相关表型.结果:Peters异常患者15例PITX2基因突变筛查结果发现了1种新PITX2的突变c.296delG(P.R99fsx56),导致该基因的功能异常,分析突变患者临床特征,该患者右眼诊断为Axenfeld-Rieger综合征(ARS),左眼诊断为Peters异常.而家系成员中该患者父母及无亲缘关系的正常对照者均未发现相同突变,故此突变为新生突变.PAX6基因突变筛查未能发现突变.结论:PA患者15例中检测到1个新PITX2基因突变,丰富了PITX2基因突变频谱,进一步明确了PA合并ARS眼病的临床特点,为该种少见眼病的临床诊断和发病原因提供了依据.
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