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Luigi Bisceglia, Marilena Ciaschetti, Patrizia De Bonis, Pablo Alberto Perafan Campo, Costantina Pizzicoli, Costanza Scala, Michele Grifa, Pio Ciavarella, Nicola Delle Noci, Filippo Vaira, Claudio Macaluso, Leopoldo Zelante; VSX1 Mutational Analysis in a Series of Italian Patients Affected by Keratoconus: Detection of a Novel Mutation. Invest. Ophthalmol. Vis. Sci. 2005;46(1):39-45. doi: 10.1167/iovs.04-0533.
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purpose. 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.
methods. 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.
results. 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.
conclusions. 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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