Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities.

Abstract

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.

• Authors: Mary Lillian Tocyap, Nathalie Azar, Teresa Chen, Janey Wiggs
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 141 Issue 3 Pg. 566-567 (Mar 2006) ISSN: 0002-9394 [Print] United States
• PMID: 16490510 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• Carrier Proteins
• KERA protein, human
• LRRC1 protein, human
• Membrane Proteins
• Proteoglycans
• Calcineurin

Topics

• Adult
• Calcineurin (genetics)
• Carrier Proteins (genetics)
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 12 (genetics)
• Cornea (abnormalities, pathology)
• Corneal Dystrophies, Hereditary (genetics, pathology)
• Female
• Genetic Linkage
• Humans
• Male
• Membrane Proteins (genetics)
• Microsatellite Repeats
• Myopia (genetics)
• Proteoglycans (genetics)