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Article

Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.

Journal of medical genetics - 1 May 2022

Tarilonte Maria, Ramos Patricia, Moya Jennifer, Fernandez-Sanz Guilermo, Blanco-Kelly Fiona, Swafiri Saoud Tahsin, Villaverde Cristina, Romero Raquel, Tamayo Alejandra, Gener Blanca, Calvas Patrick, Ayuso Carmen, Corton Marta

Abstract excerpt

BACKGROUND: The paired-domain transcription factor paired box gene 6 (PAX6) causes a wide spectrum of ocular developmental anomalies, including congenital aniridia, Peters anomaly and microphthalmia. Here, we aimed to functionally assess the involvement of seven potentially non-canonical splicing variants on missplicing of exon 6, which represents the main hotspot region for loss-of-function PAX6 variants....

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Identifiers

PMID: 33782094
DOI: 10.1136/jmedgenet-2020-106932

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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