title: VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
abstract: OBJECTIVE
  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.
authors.affiliation: Medical Genetics Service and Ophthalmology Department, IRCCS-CSS Hospital, San Giovanni Rotondo (Fg), Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Bisceglia
authors.forename: Marilena
authors.initials: M
authors.lastname: Ciaschetti
authors.forename: Patrizia
authors.initials: P
authors.lastname: De Bonis
authors.forename: Pablo Alberto Perafan
authors.initials: PA
authors.lastname: Campo
authors.forename: Costantina
authors.initials: C
authors.lastname: Pizzicoli
authors.forename: Costanza
authors.initials: C
authors.lastname: Scala
authors.forename: Michele
authors.initials: M
authors.lastname: Grifa
authors.forename: Pio
authors.initials: P
authors.lastname: Ciavarella
authors.forename: Nicola
authors.initials: N
authors.lastname: Delle Noci
authors.forename: Filippo
authors.initials: F
authors.lastname: Vaira
authors.forename: Claudio
authors.initials: C
authors.lastname: Macaluso
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D019781:Corneal Topography; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007558:Italy; D007640:Keratoconus / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C491583:VSX1 protein, human