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

被引:3
作者
Kletke, Stephanie N. [1 ,2 ]
Vincent, Ajoy [1 ,2 ,3 ]
Maynes, Jason T. [4 ,5 ,6 ]
Elbaz, Uri [7 ,8 ]
Mireskandari, Kamiar [1 ,2 ]
Lam, Wai-Ching [2 ,9 ]
Ali, Asim [1 ,2 ]
机构
[1] Univ Toronto, Dept Ophthalmol & Vis Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
[2] Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada
[3] SickKids Res Inst, Genet & Genome Biol, Toronto, ON, Canada
[4] Hosp Sick Children, Dept Anesthesia & Pain Med, Toronto, ON, Canada
[5] Univ Toronto, Dept Anesthesia, Toronto, ON, Canada
[6] SickKids Res Inst, Program Mol Med, Toronto, ON, Canada
[7] Rabin Med Ctr, Dept Ophthalmol, Petah Tiqwa, Israel
[8] Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel
[9] Univ Hong Kong, Dept Ophthalmol, Hong Kong, Peoples R China
关键词
PITX2; Axenfeld-Rieger syndrome; proliferative vitreoretinopathy; corneal neovascularization; ANGIOGENIC PRIVILEGE; NEURAL CREST; GENE; SPECTRUM; FOXC1; ASYMMETRY; EFFECTOR; EYE;
D O I
10.1080/13816810.2020.1768556
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:358 / 362
页数:5
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