Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities.
OBJECTIVE
To describe the ocular features of a patient with an interstitial deletion of chromosome 12 and to determine the molecular boundaries of the deletion.


METHODS
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.
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA.
Mary Lillian
ML
Tocyap
Nathalie
N
Azar
Teresa
T
Chen
Janey
J
Wiggs
D000328:Adult; D019703:Calcineurin / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003315:Cornea / Q000002:abnormalities* / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D018895:Microsatellite Repeats; D009216:Myopia / Q000235:genetics; D011509:Proteoglycans / Q000235:genetics
D002352:Carrier Proteins; C490948:KERA protein, human; C434958:LRRC1 protein, human; D008565:Membrane Proteins; D011509:Proteoglycans; D019703:Calcineurin