Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES
Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van De Sompele, Sally Hooghe, Hannes Syryn, Miriam Bauwens, Eva D′haene, Annelies Dheedene, Martine Cools, Shoko Komatsuzaki, Ewelina Preizner-Rzucidło, Alison Ross, Christine Armstrong, Wendy Watkins, Andrew Shelling, Andrea L. Vincent, · 2026
Read Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES by Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van De Sompele, Sally Hooghe, Hannes Syryn, Miriam Bauwens, Eva D′haene, Annelies Dheedene, Martine Cools, Shoko Komatsuzaki, Ewelina Preizner-Rzucidło, Alison Ross, Christine Armstrong, Wendy Watkins, Andrew Shelling, Andrea L. Vincent, (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13147215.txt.
Description
Charlotte Matton and co-authors published a 2026 study that gathered and regraded every known variant of the FOXL2 gene tied to a rare eyelid and ovary syndrome. Faults in this gene cause BPES, a condition present from birth with malformed eyelids and, in some patients, early ovary failure. The team pulled records from a Ghent genetics center spanning 2001 to 2024, plus published reports, and graded all of them under one standard scheme.
The collection holds 413 distinct gene defects from 864 index patients, including 76 defects never reported before. Most patients carried a coding change in the gene. A known hotspot stretch accounted for about a quarter of harmful cases. The authors say the unified grading will sharpen diagnosis and family counseling for this rare condition.
Catalog record
| CREATOR | Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van De Sompele, Sally Hooghe, Hannes Syryn, Miriam Bauwens, Eva D′haene, Annelies Dheedene, Martine Cools, Shoko Komatsuzaki, Ewelina Preizner-Rzucidło, Alison Ross, Christine Armstrong, Wendy Watkins, Andrew Shelling, Andrea L. Vincent, |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 46 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |