Whole exome sequence analysis of Peters anomaly.
Whole exome sequence analysis of Peters anomaly.
复制标题
彼得异常的整个外显子序列分析。
DOI：
10.1007/s00439-014-1481-x
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发表时间：
2014-12
期刊：
影响因子：
5.3
通讯作者：
Semina, Elena V.
中科院分区：
文献类型：
--
作者：
Weh, Eric;Reis, Linda M.;Happ, Hannah C.;Levin, Alex V.;Wheeler, Patricia G.;David, Karen L.;Carney, Erin;Angle, Brad;Hauser, Natalie;Semina, Elena V.
Peters异常是一种罕见的眼前段眼球发育不全的形式，也可以与其他系统性缺陷。在这个时候，大多数情况下彼得斯异常缺乏基因诊断。我们对27例综合征或孤立性Peters异常患者进行了全外显子组测序，以寻找目前已知的眼部基因中的致病突变。在先前识别的八个Peters异常基因中，我们在PAX6中鉴定了一个从头错义突变，c.155G>A，p.（Cys52Tyr），在一个患者中。对目前与不同眼部表型相关的691个额外基因的分析确定了TFAP 2A中的杂合剪接突变c.1025+2T>A，一种从头杂合无义突变c.715C>T，p.（Gln239*），半合子突变c.385G>A，p.（Glu129Lys），一个半合子突变c.3446C>T，p.（Pro1149Leu）和复合杂合突变c.1422T>A，p.（Tyr474*）和c.2544G>A，p.在SLC4A11中，所有的突变，除了FLNA和SLC4A11 c.2544G>A等位基因，都是新的。这是首次使用全外显子组测序来辨别患有综合征或孤立性Peters异常的大型患者队列的遗传病因的研究。我们报告了5个与这种情况相关的新基因，并建议在Peters异常和相关综合征特征患者中筛查TFAP 2A和FLNA，在孤立性Peters异常患者中筛查HCCS、NDP和SLC4A11。
Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized Peters anomaly genes, we identified a de novo missense mutation in PAX6, c.155G>A, p.(Cys52Tyr), in one patient. Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel. This is the frst study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly. We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly.
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DOI：
10.1083/jcb.152.3.545
发表时间：
2001-02-05
期刊：
The Journal of cell biology
影响因子：
--
作者：
Hjalt TA;Amendt BA;Murray JC
通讯作者：
Murray JC
影响因子：
2.5
作者：
Gage, Philip J.;Zacharias, Amanda L.
通讯作者：
Zacharias, Amanda L.
影响因子：
3.5
作者：
Acharya, Moulinath;Huang, LiJia;Walter, Michael A.
通讯作者：
Walter, Michael A.
影响因子：
11.1
作者：
Indrieri, Alessia;Conte, Ivan;Franco, Brunella
通讯作者：
Franco, Brunella
影响因子：
3.9
作者：
Chao, LY;Mishra, R;Saunders, GF
通讯作者：
Saunders, GF