VSX1 Mutational Analysis in a Series of Italian Patients Affected by Keratoconus: Detection of a Novel Mutation

• Published in: Investigative ophthalmology & visual science Vol. 46; no. 1; pp. 39 - 45
• Main Authors: Bisceglia, Luigi, Ciaschetti, Marilena, De Bonis, Patrizia, Campo, Pablo Alberto Perafan, Pizzicoli, Costantina, Scala, Costanza, Grifa, Michele, Ciavarella, Pio, Noci, Nicola Delle, Vaira, Filippo, Macaluso, Claudio, Zelante, Leopoldo
• Format: Journal Article
• Language: English
• Published: Rockville, MD ARVO 01.01.2005; Association for Research in Vision and Ophtalmology
• Subjects: Adolescent; Adult; Biological and medical sciences; Child; Corneal Topography; Diseases of cornea, anterior segment and sclera; DNA Mutational Analysis; Eye Proteins - genetics; Female; Homeodomain Proteins - genetics; Humans; Italy; Keratoconus - ethnology; Keratoconus - genetics; Male; Medical sciences; Middle Aged; Mutation; Ophthalmology; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Italy; Europe; Human; Italian; Patient; Keratopathy; Medical screening; Eye disease; Keratoconus; Analysis; Mutation; Ophthalmology; Detection; In series; Anterior segment disease
• ISSN: 0146-0404; 1552-5783; 1552-5783
• DOI: 10.1167/iovs.04-0533

Keratoconus is a noninflammatory corneal disorder that is clinically and genetically heterogeneous. Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus. To evaluate the possible role of the VSX1 gene in a series of Italian patients, 80 keratoconus-affected subjects were screened for mutations. The diagnosis of keratoconus was made on the basis of clinical examination and corneal topography. The whole coding region and the exon-intron junctions of the VSX1 gene were analyzed by direct sequencing. Three already-described changes, D144E, G160D, and P247R, and a novel L17P mutation were found in 7 of 80 unrelated patients (8.7%). Two undescribed intronic polymorphisms are also reported. Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus, when it is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.