Clinical and Molecular Characterization of a Patient With an Intertitial Deletion of Chromoome 12q15-q23 and Peripheral Corneal Abnormalitie

Purpoe To decribe the ocular feature of a patient with an intertitial deletion of chromoome 12 and to determine the molecular boundarie of the deletion. Deign Obervational cae report and laboratory invetigation. Method A patient with an intertitial deletion of chromoome 12 wa clinically examined for ocular abnormalitie. DNA ample were ued for molecular tudie to define the deletion boundarie. Reult Ocular examination howed abnormalitie of the anterior egment conitent with a diagnoi of cornea plana. Molecular analye howed the deletion included the KERA gene, the LRP (mall leucine repeat protein) gene cluter, the genetic loci for autoomal-dominant (CNA1) and autoomal-receive (CNA2) cornea plana, and a portion of the mapped locu for high myopia (MYP3). Concluion Thee reult, combined with previou genetic linkage tudie, identifie a 3-cM region located between microatellite marker D1282 and D12351 that i likely to contain a gene reponible for CNA1.