RGD Reference Report - Mutations in KERA, encoding keratocan, cause cornea plana. - Rat Genome Database

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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.
RGD ID: 1600335
Pubmed: PMID:10802664   (View Abstract at PubMed)
DOI: DOI:10.1038/75664   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
KERAHumanarcus senilis  IAGP autosomal recessive cornea plana and OMIM:217300 DNA:point_mutation:CDS:amino acid N247SRGD 
KeraRatarcus senilis  ISOKERA (Homo sapiens)autosomal recessive cornea plana and OMIM:217300RGD 
KeraMousearcus senilis  ISOKERA (Homo sapiens)autosomal recessive cornea plana and OMIM:217300RGD 
KERAHumancorneal dystrophy  IAGP autosomal recessive cornea plana and OMIM:217300 DNA:point_mutation:CDS:amino acid N247SRGD 
KeraRatcorneal dystrophy  ISOKERA (Homo sapiens)autosomal recessive cornea plana and OMIM:217300RGD 
KeraMousecorneal dystrophy  ISOKERA (Homo sapiens)autosomal recessive cornea plana and OMIM:217300RGD 

Objects Annotated

Genes (Rattus norvegicus)
Kera  (keratocan)

Genes (Mus musculus)
Kera  (keratocan)

Genes (Homo sapiens)
KERA  (keratocan)


Additional Information