Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are currently known to cause inherited forms of glaucoma with onset before age 20. While all the early-onset glaucoma genes cause severe disease, considerable phenotypic variability is observed among mutations carriers. In particular, FOXC1 genetic variants are associated with a broad range of phenotypes including multiple forms of glaucoma and also systemic abnormalities, especially hearing loss. FOXC1 is a member of the forkhead family of transcription factors and is involved in neural crest development necessary for formation of anterior eye structures and also pharyngeal arches that form the middle ear bones. In this study we review the clinical phenotypes reported for known FOXC1 mutations and show that mutations in patients with reported ocular anterior segment abnormalities and hearing loss primarily disrupt the critically important forkhead domain. These results suggest that optimal care for patients affected with anterior segment dysgenesis should include screening for FOXC1 mutations and also testing for hearing loss.

中文翻译：

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儿童青光眼基因和表型：关注引起前节发育不全和听力下降的FOXC1突变。

儿童青光眼是全世界失明的重要原因。目前已知有11个基因会在20岁之前引发青光眼的遗传形式。虽然所有早发性青光眼基因都会导致严重疾病，但在突变携带者中观察到了明显的表型变异性。特别是，FOXC1遗传变异与广泛的表型有关，包括多种形式的青光眼以及全身异常，尤其是听力下降。FOXC1是叉形转录因子家族的成员，并参与形成前眼结构以及形成中耳骨骼的咽弓所必需的神经c发育。在这项研究中，我们审查了已知FOXC1突变报道的临床表型，并表明已报道眼前节异常和听力丧失的患者中的突变主要破坏了至关重要的叉头结构域。这些结果表明，对患有前节发育不良的患者的最佳护理应包括筛查FOXC1突变以及测试听力损失。