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.

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation / Bisceglia, L; Ciaschetti, M; DE BONIS, P; PERAFAN CAMPO, Pa; Pizzicoli, C; Scala, C; Grifa, M; Ciavarella, Pio; DELLE NOCI, N; Vaira, F; Macaluso, Claudio; Zelante, L.. - In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. - ISSN 0146-0404. - 46:(2005), pp. 39-45.

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

MACALUSO, Claudio;
2005-01-01

Abstract

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.
2005
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation / Bisceglia, L; Ciaschetti, M; DE BONIS, P; PERAFAN CAMPO, Pa; Pizzicoli, C; Scala, C; Grifa, M; Ciavarella, Pio; DELLE NOCI, N; Vaira, F; Macaluso, Claudio; Zelante, L.. - In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. - ISSN 0146-0404. - 46:(2005), pp. 39-45.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/1445542
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