Clinical and Molecular Characterization of a Patient With an Interstitial Deletion of Chromosome 12q15-q23 and Peripheral Corneal Abnormalities

Purpose To describe the ocular features of a patient with an interstitial deletion of chromosome 12 and to determine the molecular boundaries of the deletion. Design Observational case report and laboratory investigation. Methods A patient with an interstitial deletion of chromosome 12 was clinically examined for ocular abnormalities. DNA samples were used for molecular studies to define the deletion boundaries. Results Ocular examination showed abnormalities of the anterior segment consistent with a diagnosis of cornea plana. Molecular analyses showed the deletion included the KERA gene, the SLRP (small leucine repeat protein) gene cluster, the genetic loci for autosomal-dominant (CNA1) and autosomal-recessive (CNA2) cornea plana, and a portion of the mapped locus for high myopia (MYP3). Conclusions These results, combined with previous genetic linkage studies, identifies a 3-cM region located between microsatellite markers D12S82 and D12S351 that is likely to contain a gene responsible for CNA1.