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Article

Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.

European journal of human genetics : EJHG - 1 May 2016

Medina-Trillo Cristina, Aroca-Aguilar José-Daniel, Méndez-Hernández Carmen-Dora, Morales Laura, García-Antón Maite, García-Feijoo Julián, Escribano Julio

Abstract excerpt

Primary congenital glaucoma (PCG) is the cause of a significant proportion of inherited visual loss in children, but the underlying mechanism is poorly understood. In this study, we assessed the relationship between PCG and FOXC1 variants by Sanger sequencing the proximal promoter and transcribed sequence of FOXC1 from a cohort of 133 PCG families with no known CYP1B1 or MYOC mutations. The pathogenicity of the...

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Source

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Identifiers

PMID: 26220699
DOI: 10.1038/ejhg.2015.169
PMCID: PMC4930079

Genes

FOXC1
MYOC
PITX2

Variants

rs730882054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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