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Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Human mutation - 1 Jan 2026

Matton Charlotte, Van De Velde Julie, De Bruyne Marieke, Van De Sompele Stijn, Hooghe Sally, Syryn Hannes, Bauwens Miriam, D Haene Eva, Dheedene Annelies, Cools Martine, Komatsuzaki Shoko, Preizner-Rzucidło Ewelina, Ross Alison, Armstrong Christine, Watkins Wendy, Shelling Andrew, Vincent Andrea L, Cassiman Catherine, Vermeer Sascha, Bunyan David J, Verdin Hannah, De Baere Elfride

Abstract excerpt

Heterozygous FOXL2 (non)coding sequence and structural variants (SVs) lead to blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), a rare, autosomal dominant developmental disorder characterized by a completely penetrant eyelid malformation and incompletely penetrant primary ovarian insufficiency (POI). We collected variants from our in-house database, generated via clinical genetic testing and...

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Blepharophimosis
Databases, Genetic
Forkhead Box Protein L2
FOXL2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Skin Abnormalities

Urogenital Abnormalities

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Identifiers

PMID: 42100494
DOI: 10.1155/humu/8478740
PMCID: PMC13147215

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.PMID 42100494Read ↗

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Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.Semantic proximity Read ↗

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Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutationsSemantic proximity Read ↗

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