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Article

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.

Ophthalmic genetics - 1 Oct 2026

Ismedon Margaux, Smirnov Vasily, Hamerstehl Aurelie, David Thierry T D, Denis Daniele, Ramtohul Prithvi, Aziz Aurore

Abstract excerpt

INTRODUCTION: Coffin-Siris syndrome (CSS) type 1 is a rare genetic disorder characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanx, most commonly caused by pathogenic variants in the ARID1B gene. METHODS: We report the first confirmed case of primary congenital glaucoma in a patient with Coffin-Siris syndrome type 1. RESULTS: A six-month-old girl was...

Read the complete abstract on PubMed

Topics

Humans
Female
Transcription Factors
Hand Deformities, Congenital
DNA-Binding Proteins
Face

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Abnormalities, Multiple

Infant

Micrognathism

Glaucoma

Neck

Intellectual Disability

Frameshift Mutation

Intraocular Pressure

Trabeculectomy

Mutation

Source

Identifiers

PMID: 41911953
DOI: 10.1080/13816810.2026.2652012

Genes

ARID1B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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