Novel variant in FGFR2 in a family with anterior segment anomalies. Ophthalmic Genet 2026 Jun;47(3):304-308
Date
01/05/2026Pubmed ID
41486651DOI
10.1080/13816810.2025.2611116Scopus ID
2-s2.0-105026691445 (requires institutional sign-in at Scopus site)Abstract
BACKGROUND: Ocular anomalies reported in FGFR2-related craniosynostosis include refractive errors, exophthalmos, and strabismus. Anterior segment anomalies have occasionally been reported in cases of FGFR2-related craniosynostosis.
METHODS: We report a three-year-old boy with unilateral Peters anomaly, short stature, facial dysmorphism, posterior plagiocephaly, heart defects, and developmental delay. His maternal half-sister had bilateral posterior embryotoxon, dysmorphism, brittle teeth, umbilical hernia, developmental delay, heart defects, and microcephaly. Their mother had a normal slit lamp exam.
RESULTS: A novel variant was found in FGFR2 (NM_000141.4: c.1376T>G p.(Met459Arg)) in the proband and maternal half-sister. No other variants of interest were identified in anterior segment genes. Incidentally, we identified a hemizygous variant in FGD1 (NM_004463.3: c.1292dupT p.(His432Profs*8)) in the proband; heterozygous in the mother.
CONCLUSION: FGD1 is associated with Aarskog-Scott syndrome (AAS) while FGFR2 is linked with 14 different phenotypes. The proband's features suggest AAS except for Peters anomaly and heart defects, which have been reported with FGFR2 variants. The shared novel FGFR2 variant suggests a dual diagnosis for the proband. Our findings support a role for FGFR2 in anterior segment development and broaden the genotypic and phenotypic spectrum of FGFR2-related disorders.
Author List
Chattannavar G, Haefeli LM, Procopio R, Reis LM, Capasso JE, Thuma TBT, Semina EV, Schneider A, Levin AVAuthor
Elena V. Semina PhD Chief, Professor in the Ophthalmology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleAnterior Eye Segment
Child, Preschool
Corneal Opacity
Eye Abnormalities
Female
Heart Defects, Congenital
Humans
Male
Mutation
Pedigree
Phenotype
Receptor, Fibroblast Growth Factor, Type 2
