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Article

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Human molecular genetics - 12 Aug 2021

Reis Linda M, Sorokina Elena A, Dudakova Lubica, Moravikova Jana, Skalicka Pavlina, Malinka Frantisek, Seese Sarah E, Thompson Samuel, Bardakjian Tanya, Capasso Jenina, Allen William, Glaser Tom, Levin Alex V, Schneider Adele, Khan Ayesha, Liskova Petra, Semina Elena V

Abstract excerpt

The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We identified FOXE3 variants in individuals with congenital eye malformations and carried out in vitro functional analysis on selected alleles. Sixteen new recessive and...

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Identifiers

PMID: 34046667
DOI: 10.1093/hmg/ddab142
PMCID: PMC8369840

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