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Mutations in KERA, encoding keratocan, cause cornea plana.

Authors: Pellegata, NS  Dieguez-Lucena, JL  Joensuu, T  Lau, S  Montgomery, KT  Krahe, R  Kivela, T  Kucherlapati, R  Forsius, H  De la Chapelle, A 
Citation: Pellegata NS, etal., Nat Genet. 2000 May;25(1):91-5.
Pubmed: (View Article at PubMed) PMID:10802664
DOI: Full-text: DOI:10.1038/75664

Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder, dominantly inherited form (CNA1; MIM 121400) exist. CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population. The gene mutated in CNA2 was assigned by linkage analysis to 12q (refs 4, 5), where there is a cluster of several SLRP genes. We cloned two additional SLRP genes highly expressed in cornea: KERA (encoding keratocan) in 12q and OGN (encoding osteoglycin) in 9q. Here we report mutations in KERA in 47 CNA2 patients: 46 Finnish patients are homozygous for a founder missense mutation, leading to the substitution of a highly conserved amino acid; and one American patient is homozygous for a mutation leading to a premature stop codon that truncates the KERA protein. Our data establish that mutations in KERA cause CNA2. CNA1 patients had no mutations in these proteoglycan genes.

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CRRD Object Information
CRRD ID: 1600335
Created: 2007-03-07
Species: All species
Last Modified: 2007-03-07
Status: ACTIVE



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