|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing revealed the recurring IFITM5:c.-14 C>T variant causing OI type V. Both patients had several fractures during childhood.
|
31099171 |
2019 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since 2012, a single recurrent heterozygous mutation in IFITM5 (c.-14C>T) has been shown to underlie OI type V. Although this is the most common OI-causing mutation in IFITM5, a second, less common mutation in IFITM5, c.119C>T (p.Ser40Leu), has been identified, which is not associated with the OI type V phenotype.
|
30039845 |
2018 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to further understand the effects of MALEP-BRIL in vivo, we generated a knockin (KI) mouse model having the exact genetic -14C>T replica of patients with OI type V. Live KI descendants were never obtained from 2 male mosaic founders.
|
29174564 |
2018 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two patients with OI type V (caused by IFITM5 mutations) had total PAR scores of 44 and 21.
|
29388328 |
2018 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this review, the current state of knowledge of OI pathological mechanisms due to IFITM5 mutations will be reviewed.
|
26031935 |
2016 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
What is new in genetics and osteogenesis imperfecta classification?
|
25046257 |
2015 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to examine the role of osteoblasts in the active mineralization traits of type V OI and the effect of the IFITM5 mutation on type I collagen.
|
25387264 |
2015 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
The purpose of the current study was to re-assess the topology, localization, and biochemical properties of BRIL and compare it to the OI type V mutant in MC3T3 osteoblasts.
|
24715519 |
2014 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.
|
24519609 |
2014 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The IFITM5 gene has recently been found to be mutated in patients with autosomal dominant osteogenesis imperfecta (OI) type V. This form of OI is characterized by distinctive clinical manifestations, including hyperplastic callus formation at the site of fractures, calcification of the interosseous membrane of the forearm, and dislocation of the head of the radius.
|
24478195 |
2014 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In contrast, osteoblasts from a typical case of type V OI, with an activating mutation at the 5'-terminus of BRIL, have increased SERPINF1 expression and PEDF secretion during osteoblast differentiation.
|
24519609 |
2014 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our finding has important consequences for the genetic "work-up" of patients suspected to have OI, both in prenatal and in postnatal settings: The entire gene-not only the 5'-UTR harboring the "classical" OI type V mutation-has to be analyzed to exclude a causal role of IFITM5.
|
24293101 |
2014 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All nine subjects with OI type V were heterozygous for the c.-14C > T IFITM5 mutation.
|
24674092 |
2014 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families.
|
23408678 |
2013 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
IFITM5 exon 1 was analysed by Sanger sequencing in genomic DNA from 42 patients with OI type V (age: 2-67 years; 18 female).
|
23240094 |
2013 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a 5-year-old child with clinical features of OI type III or severe OI type IV (characteristic facies, gray sclerae, typical fractures) and absence of classical features of OI type V with a de novo recurrent IFITM5 mutation (c.-14C > T), now typical of OI type V. This highlights the variability of OI caused by IFITM5 mutations and suggests screening for mutations in this gene in most cases of OI where type 1 collagen mutations are absent.
|
23674381 |
2013 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.
|
22863190 |
2012 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
|
22863195 |
2012 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.
|
22863190 |
2012 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.
|
22863190 |
2012 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
|
22863195 |
2012 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.
|
22863190 |
2012 |
|
Osteogenesis imperfecta, type 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Osteogenesis imperfecta, type 5
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Osteogenesis imperfecta, type 5
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|