Novel variant in <i>FGFR2</i> in a family with anterior segment anomalies
<i>FGD1</i> is associated with Aarskog-Scott syndrome (AAS) while <i>FGFR2</i> is linked with 14 different phenotypes. The proband's features suggest AAS except for Peters anomaly and heart defects, which have been reported with <i>FGFR2</i> variants. The shared novel <i>FGFR2</i> variant suggests a dual diagnosis for the proband. Our findings support a role for <i>FGFR2</i> in anterior segment development and broaden the genotypic and phenotypic spectrum of <i>FGFR2</i>-related disorders.
Authors
- Goura Chattannavar (ORCID: https://orcid.org/0000-0001-7825-4834)
- Tobin B. T. Thuma
- Jenina Capasso (ORCID: https://orcid.org/0000-0002-8746-9113)
- Rebecca Procopio
- Elena Semina
- Adele Schneider
- Lorena M. Haefeli
- Linda M. Reis
- Alex V. Levin
Institutions
- University of Iowa (US)
- Medical College of Wisconsin (US)
- L V Prasad Eye Institute (IN)
- University of Rochester (US)
- Wills Eye Hospital (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-01-04
- DOI
- https://doi.org/10.1080/13816810.2025.2611116
- Primary Topic
- Fibroblast Growth Factor Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00