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Article

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

International journal of molecular sciences - 13 Jan 2023

Tamayo Alejandra, Núñez-Moreno Gonzalo, Ruiz Carolina, Plaisancie Julie, Damian Alejandra, Moya Jennifer, Chassaing Nicolas, Calvas Patrick, Ayuso Carmen, Minguez Pablo, Corton Marta

Abstract excerpt

PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus, including the non-coding regions, by next-generation sequencing revealed four deep-intronic variants with potential effects on pre-RNA splicing. Nevertheless, without a functional analysis, their pathogenicity could not be established. We aimed to decipher...

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PMID: 36675087
DOI: 10.3390/ijms24021562
PMCID: PMC9863980

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