title: Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea.
abstract: OBJECTIVE
  The aim of this study was to determine the mutation associated with X-linked megalocornea (MGC1) found in 2 patients from the same area in southern Italy.
  
  
  METHODS
  Diagnosis of megalocornea was confirmed by detailed ophthalmic examination in 2 probands from independent families and in another 3 affected family members. Genomic DNA of the probands was used to amplify and sequence all the coding regions of CHRDL1.
  
  
  RESULTS
  Megalocornea diagnosis was associated with a novel mutation found in the probands and affected kindreds (5 subjects). The mutation is an 11-base pair deletion that leads to a stop codon in the second coding exon of the CHRDL1 gene. Research on the CHRDL1 mutation was also performed on other family members (11 subjects) not affected by MGC1, and the mutation was not detected in unaffected male family members.
  
  
  CONCLUSIONS
  The detection of mutations in the CHRDL1 gene is useful for differential diagnosis with different forms of megalocornea.
authors.affiliation: *Department of Clinical and Experimental Medicine, Ophthalmology Unit, University of Magna Graecia, Catanzaro, Italy; and †Department of Clinical and Experimental Medicine, Medical Genetics Unit, University of Magna Graecia, Catanzaro, Italy.
authors.forename: Domenica
authors.initials: D
authors.lastname: Mangialavori
authors.forename: Emma
authors.initials: E
authors.lastname: Colao
authors.forename: Adriano
authors.initials: A
authors.lastname: Carnevali
authors.forename: Donatella
authors.initials: D
authors.lastname: Bruzzichessi
authors.forename: Teresa
authors.initials: T
authors.lastname: Grillone
authors.forename: Nicola
authors.initials: N
authors.lastname: Perrotti
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Iuliano
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Scorcia
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: C486602:CHRDL1 protein, human; D005136:Eye Proteins; D009419:Nerve Tissue Proteins