RUNX2 genetic variants were detected in seven unrelated children with cleidocranial dysplasia. The Gly223Val mutation made RUNX2 protein unable to quantitatively accumulate in the nucleus.
we identified a novel missense mutation of RUNX2 in 2 patients by Whole exome sequencing and showed potential correlations between facial phenotypes and missense mutations in Runt domain through a mini-meta analysis.
Presence of RUNX2 18 bps deletion variant in helathy individuals its high population frequency benign effect on the overall protein structure suggests that this variant is a population polymorphism rather than a cleidocranial dysplasia causative mutation.
Study identifies a novel missense mutation (c.895 T>C Y299H) in exon 5 of Runx2 gene in patients with cleidocranial dysplasia (CCD). This mutation results in an amino acid change at codon 895 (P.Tyr 299 His.) from a tryptophan codon (TAT) to a histidine codon (CAT).
Results identified a novel mutation besides the previously known in one patient with cleidocranial dysplasia (CCD). G462X mutation in exon 8 is located in the C-terminus of proline/serine/threonine-rich (PST) domain. It might reduce the Runx2 transacting activity lower the protein stability downgrade the expression of bone marker genes and eventually diminish osteoblast differentiation in CCD patients.
findings demonstrated that the novel c.398-399insACAGCAGCAGCAGCA mutation occurred alongside the c.411-412insG frameshift mutation which resulted in RUNX2 truncation. RUNX2 haploinsufficiency was associated with cleidocranial dysplasia pathogenesis
Studied association of runt-related transcription factor 2 (RUNX2) polymorphisms with susceptibility and prognosis of ossification of posterior longitudinal ligament.
One association in the CTNNA2 gene on chromosome 2p12 [rs1567532 hazard ratio (HR) = 1.75 95% confidence interval (CI) 1.19-2.58 P = 0.005 for homozygotes for the minor allele] and one in the last intron of the RUNX2 gene on chromosome 6p21 (rs12209785 HR = 0.88 95% CI 0.80-0.98 P = 0.014 for heterozygotes) are of particular relevance. These loci do not coincide with those that showed the strongest associations in t
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