Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
- PMID: 20362275
- PMCID: PMC2850430
- DOI: 10.1016/j.ajhg.2010.02.022
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
Erratum in
- Am J Hum Genet. 2010 Oct 8;87(4):572-3
Abstract
Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of OI result from mutations in COL1A1 or COL1A2, which encode the chains of the type I procollagen heterotrimer. The mildest form of OI typically results from diminished synthesis of structurally normal type I procollagen, whereas moderately severe to lethal forms of OI usually result from structural defects in one of the type I procollagen chains. Recessively inherited OI, usually phenotypically severe, has recently been shown to result from defects in the prolyl-3-hydroxylase complex that lead to the absence of a single 3-hydroxyproline at residue 986 of the alpha1(I) triple helical domain. We studied a cohort of five consanguineous Turkish families, originating from the Black Sea region of Turkey, with moderately severe recessively inherited OI and identified a novel locus for OI on chromosome 17. In these families, and in a Mexican-American family, homozygosity for mutations in FKBP10, which encodes FKBP65, a chaperone that participates in type I procollagen folding, was identified. Further, we determined that FKBP10 mutations affect type I procollagen secretion. These findings identify a previously unrecognized mechanism in the pathogenesis of OI.
(c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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Comment in
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FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?Am J Hum Genet. 2010 Aug 13;87(2):306-7; author reply 308. doi: 10.1016/j.ajhg.2010.05.020. Am J Hum Genet. 2010. PMID: 20696291 Free PMC article. No abstract available.
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