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

• DOI: 10.1111/j.1755-3768.2022.0357
• Publication Date: 2022-12-21T02:01:56Z
• Authors: Jana Jedličková; Pavlína Skalická; Lubica Dudakova; Petra Liskova
• Keywords: Proband; Dysgenesis; Sanger sequencing

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