Snail track a in a case with anterior segment dysgenesis caused by a novel FOXC1 variant

Abstract Purpose: To identify disease‐causing mutation in one proband of Czech origin with anterior segment dysgenesis (ASD) and to describe the associated phenotype. Methods: After complex ophthalmic examination of 15‐year‐old female at the Department of Ophthalmology, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, DNA extraction from blood was performed. Pathogenic variants in genes associated with ASD were searched using exome sequencing. Confirmation of the presence of causal variant and segregation within the family members was performed by Sanger sequencing. Standard paternity testing was performed to confirm de novo origin of the variant. Results: Except for common finding of ASD as mild iris hypoplasia, pupil deformation in both eyes, and unilateral iridocorneal adhesions, there was a snail track lesion of the right cornea at the level of the Descemet membrane. Molecular genetic analysis revealed that the proband was a carrier of a novel heterozygous frameshifting variant in the FOXC1 gene: NM_001453.3: c.605del, p.(Pro202Argfs*113). De novo origin was confirmed by the absence of the variant in healthy parents and sister of proband, and further by the paternity testing. Conclusions: Loss of visual functions in ASD is often very acute, therefore establishing molecular diagnosis highly impacts patient management and enabling prenatal diagnostics. Further studies need to be performed to verify if there is a true association of snail tracks and pathogenic variants in FOXC1 .