Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Codon 831 of the FKBP10 gene may represent a mutation hotspot for human OI.
|
29512769 |
2018 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify genetic cause of OI in our patient, whole exome sequencing (WES) was carried out and it revealed a novel deleterious homozygote splice acceptor site mutation (c.1257-2A > G, IVS7-2A > G) in FKBP10 gene in the patient.
|
29801479 |
2018 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FK506 Binding Protein 10 (FKBP10), gene encoding the 65-kDa protein FKBP65, cause a recessive form of OI and Bruck syndrome, the latter being characterized by joint contractures in addition to low bone mass.
|
28206698 |
2017 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we report for the first time that these novel pathogenic mutations of FKBP10 can lead to the extremely rare type XI OI without contractures, which expands the genotypic spectrum of OI.
|
27762305 |
2017 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients.
|
27706701 |
2016 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
|
26538303 |
2016 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified a new OI mutation in SERPINH1 that results in destabilization and mislocalization of HSP47 and secondarily has similar effects on FKBP65.
|
25510505 |
2015 |
Osteogenesis Imperfecta
|
0.100 |
Biomarker
|
disease |
BEFREE |
Heat shock protein 47 (HSP47) and FK506-binding protein-65 (FKBP65) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinking, folding, and chaperoning, while defects in SP7 transcription factor, wingless-type MMTV integration site family member 1 (WNT1), trimeric intracellular cation channel type b (TRIC-B), and old astrocyte specifically induced substance (OASIS) disrupt osteoblast development.
|
25007323 |
2014 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
|
22949511 |
2013 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in FKBP10 at 17q21.2, encoding FKBP65, cause both osteogenesis imperfecta (OI) and Bruck syndrome (OI plus congenital contractures).
|
23712425 |
2013 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a patient with an initially mild and then progressively severe form of osteogenesis imperfecta due to a novel homozygous splicing mutation in FKBP10 (intron 8 c.1399+1G>A), which results in aberrant mRNA processing and consequent lack of FKBP65 chaperone.
|
22061863 |
2012 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of patients with autosomal recessive OI.
|
21667357 |
2012 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures.
|
22689593 |
2012 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family.
|
21567934 |
2011 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Six other genes, CRTAP, LEPRE1, FKBP10, PP1B, SP7/Osterix (OSX), and SERPINH1, are associated with autosomal recessive forms of OI.
|
21567925 |
2011 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we conclude that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruck syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized.
|
20839288 |
2011 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
|
22107750 |
2011 |
Osteogenesis Imperfecta
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
|
20362275 |
2010 |