期刊
NATURE GENETICS
卷 25, 期 1, 页码 91-95出版社
NATURE AMERICA INC
DOI: 10.1038/75664
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资金
- NCI NIH HHS [P30 CA16058] Funding Source: Medline
- PHS HHS [NG1763] Funding Source: Medline
Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure(1) In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction(2). 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(3). The gene mutated in CNA2 was assigned by linkage analysis to 12q (refs 4,5), where there is a cluster of several SLRP genes(6-9). 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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