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      VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

      Investigative ophthalmology & visual science

      Adolescent, Adult, Child, Corneal Topography, DNA Mutational Analysis, Eye Proteins, genetics, Female, Homeodomain Proteins, Humans, Italy, Keratoconus, ethnology, Male, Middle Aged, Mutation, Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic

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          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.

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