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 investig...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 autosomalrecessive (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.展开更多
文摘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 autosomalrecessive (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.
