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首页> 外文期刊>Case Reports in Genetics >Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome
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Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

机译：先天性青光眼：Hajdu-Cheney综合征的新型眼病。

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Hajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycystic kidneys. We describe an infant with severe manifestations of HCS in whom congenital glaucoma was a significant early feature, which has not been reported to date. HCS cases reported to date have involved truncating mutations in exon 34 of NOTCH2 upstream the PEST domain that lead to the development of a truncated and stable NOTCH2 protein which upregluates notch signaling. We describe a hitherto undescribed missense mutation that is predicted to be pathogenic, with functional characterization remaining to be performed. Serpentine fibula-polycystic kidney syndrome (SFPKS) is allelic to HCS and commonly associated with missense NOTCH2 mutations. Our patient provides new ophthalmological manifestations of HCS and provides insight into the potential role of notch signaling in the anterior chamber development.
机译：Hajdu-Cheney综合征（HSC）是一种罕见的多系统疾病，其表型涉及肢端骨溶解，严重骨质疏松，身材矮小，蠕虫骨头，面部畸形，中枢神经系统异常，心血管缺陷和多囊肾。我们描述了具有HCS严重表现的婴儿，其中先天性青光眼是重要的早期特征，迄今为止尚未报道。迄今报道的HCS病例涉及PEST结构域上游NOTCH2的外显子34的截短突变，导致突变和稳定的NOTCH2蛋白的发展，其上调了Notch信号传导。我们描述了迄今未描述的错义突变，该突变预计是致病的，功能表征尚待执行。蛇行腓骨-多囊肾综合征（SFPKS）是HCS的等位基因，通常与错义的NOTCH2突变有关。我们的患者提供了HCS的新眼科表现，并深入了解了陷波信号在前房发育中的潜在作用。

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