A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.,Ophthalmic Genetics

当前位置： X-MOL 学术 › Ophthalmic Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-05-19 , DOI: 10.1080/13816810.2020.1768556
Stephanie N Kletke _{1,

2} , Ajoy Vincent _{1,

2,

3} , Jason T Maynes _{4,

5,

6} , Uri Elbaz _{7,

8} , Kamiar Mireskandari _{1,

2} , Wai-Ching Lam _{2,

9} , Asim Ali _{1,

2}

Affiliation

Background

Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1.

Materials and Methods

Single retrospective case report.

Results

A full-term infant presented at 5 weeks of age with bilateral Peters anomaly and Axenfeld-Rieger syndrome, with development of atypical features of progressive corneal neovascularization and proliferative vitreoretinopathy. Despite surgical interventions, the patient progressed to bilateral phthisis bulbi by 22 months of age. Genetic testing revealed a novel de novo p.Leu212Valfs*39 mutation in PITX2, leading to loss of a C-terminal OAR domain that functions in transcriptional regulation.

Conclusions

It is important to consider mutations in PITX2 in atypical cases of anterior segment dysgenesis that also present with abnormalities in the angiogenesis of the anterior and posterior segments.

中文翻译：

PITX2 的从头突变是一种独特形式的 Axenfeld-Rieger 综合征的基础，该综合征伴有角膜新生血管和广泛的增殖性玻璃体视网膜病变。

背景

Axenfeld-Rieger 综合征的特征是一系列涉及神经嵴衍生组织的眼前节发育不全，最常见的是继发于转录因子基因PITX2和FOXC1突变。

材料和方法

单一回顾性病例报告。

结果

一名足月婴儿在 5 周大时出现双侧 Peters 异常和 Axenfeld-Rieger 综合征，并出现进行性角膜新生血管和增殖性玻璃体视网膜病变的非典型特征。尽管进行了手术干预，患者在 22 个月大时仍发展为双侧球部肺痨。基因测试揭示了PITX2中新的 p.Leu212Valfs*39 突变，导致在转录调控中发挥作用的 C 端 OAR 结构域的丢失。