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Mutations in KERA, encoding keratocan, cause cornea plana
N S Pellegata1, J L Dieguez-Lucena, T Joensuu
1Division of Human Cancer Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA.
Nature Genetics
|May 10, 2000
Summary
Mutations in the KERA gene cause congenital cornea plana type 2 (CNA2), a rare inherited eye disorder affecting corneal shape and refraction. This research identifies KERA mutations in affected individuals, particularly a founder mutation in the Finnish population.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- The cornea's transparency relies on specialized collagens and small leucine-rich proteoglycans (SLRPs).
- Cornea plana is characterized by a flattened corneal curvature, reducing refractive power.
- Congenital cornea plana has distinct forms: a severe recessive type (CNA2) and a milder dominant type (CNA1).
Purpose of the Study:
- To identify the genetic cause of congenital cornea plana type 2 (CNA2).
- To investigate the role of SLRP genes in corneal structure and disease.
- To analyze mutations in the KERA gene in CNA2 patients.
Main Methods:
- Linkage analysis to map the CNA2 gene to chromosome 12q.
- Cloning and sequencing of cornea-expressed SLRP genes, including KERA and OGN.
- Mutation analysis of the KERA gene in 47 CNA2 patients.
Main Results:
- Mutations in the KERA gene were identified in 47 CNA2 patients.
- 46 Finnish patients were homozygous for a founder missense mutation in KERA.
- One American patient was homozygous for a KERA mutation causing a premature stop codon.
Conclusions:
- Mutations in the KERA gene are the cause of congenital cornea plana type 2 (CNA2).
- A founder mutation in KERA explains the high prevalence of CNA2 in the Finnish population.
- No mutations in the studied proteoglycan genes were found in CNA1 patients.