CCD RUNX2

Disease ID
CCD
Gene ID
RUNX2
Clinical Links
GARD
6118
GeneReviews
NBK1513
MalaCard
CLD001
MedGen
3486
Mondo
0007340
OMIM
119600
Orphanet
1452
Bioinformatical Links
gnomAD
RUNX2
STRipy
RUNX2
TR-Atlas
TR65117
WebSTR hg38
5789216

Disease

Name
Cleidocranial dysplasia
Inheritance
Autosomal dominant
Description
A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections.1 .
Prevalence
All conditions 1/1,000,000 births (likely underdiagnosed); Utah population frequency 0.12/10,000. Found in many ethnic groups2 . TR expansions causative in 2 individuals3 .
Age of OnsetYears0  0
Age of Onset Details
0 (birth)4 .

Locus

hg19
chr6:45390487-45390529
hg38
chr6:45422750-45422792
t2t
chr6:45257567-45257611
Details
Benign range (4-17 repeats) established from gnomAD and primary literature; pathogenic ranges (20-27) reflect two clinical cases to date5,6 . Intermediate alleles (i.e, 18 repeats; 19 not reported) appear to not be associated with disease7,6 .
Mechanism
LoF
Polyalanine expansion leading to haploinsufficiency6 .
Year
Causation identified in 20156 ; clinical association found in 19978
Location in Gene
Exon 3
Gene Strand

Alleles

Ref. Motif
GCN
Pathogenic (ref.)
GCN
Pathogenic (gene)
CNG
BenignPathogenicUnits4  1720  27

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0007340
2
Orphanet: Cleidocranial dysplasia
orphanet:1452
3
Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions
Stephanie E.,Wallace, Lora JH,Bean
GeneReviews® [Internet] · 2022-10-20
genereviews:NBK535148
4
Cleidocranial Dysplasia Spectrum Disorder
Keren,Machol, Roberto,Mendoza-Londono, Brendan,Lee
GeneReviews® · 1993-01-01
genereviews:NBK1513
5
gnomAD
gnomad:RUNX2
6
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient.
Akio,Shibata, Junichiro,Machida, Seishi,Yamaguchi, Masashi,Kimura, Tadashi,Tatematsu, Hitoshi,Miyachi, Masaki,Matsushita, Hiroshi,Kitoh, Naoki,Ishiguro, Atsuo,Nakayama, Yujiro,Higashi, Kazuo,Shimozato, Yoshihito,Tokita
Mutagenesis · 2015-07-28
pmid:26220009
7
RUNX2 analysis of Danish cleidocranial dysplasia families.
L,Hansen, A K,Riis, A,Silahtaroglu, H,Hove, E,Lauridsen, H,Eiberg, S,Kreiborg
Clinical genetics · 2011-03-01
pmid:20560987
8
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
S,Mundlos, F,Otto, C,Mundlos, J B,Mulliken, A S,Aylsworth, S,Albright, D,Lindhout, W G,Cole, W,Henn, J H,Knoll, M J,Owen, R,Mertelsmann, B U,Zabel, B R,Olsen
Cell · 1997-05-30
pmid:9182765

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Effects of G-CSF on hPDLSC proliferation and osteogenic differentiation in the LPS-induced inflammatory microenvironment.
Hui,Yu, Pengcheng,Wang, Haibin,Lu, Jiurong,Guan, Fang,Yao, Tianyi,Zhang, Qiuxu,Wang, Zuomin,Wang
BMC oral health · 2023-06-26
pmid:37365568
Osmolarity modulates the de-differentiation of horse articular chondrocytes during cell expansion in vitro: implications for tissue engineering in cartilage repair.
Elena,De Angelis, Amelia,Barilli, Roberta,Saleri, Bianca Maria,Rotoli, Francesca,Ravanetti, Francesca,Ferrari, Luca,Ferrari, Paolo,Martelli, Valeria,Dall'Asta, Paolo,Borghetti
Veterinary research communications · 2023-05-19
pmid:37202645
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.
Shaon,Basu, Sebastian D,Mackowiak, Henri,Niskanen, Dora,Knezevic, Vahid,Asimi, Stefanie,Grosswendt, Hylkje,Geertsema, Salaheddine,Ali, Ivana,Jerković, Helge,Ewers, Stefan,Mundlos, Alexander,Meissner, Daniel M,Ibrahim, Denes,Hnisz
Cell · 2020-05-07
pmid:32386547
Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction.
Ilaria,Pelassa, Davide,Corà, Federico,Cesano, Francisco J,Monje, Pier Giorgio,Montarolo, Ferdinando,Fiumara
Human molecular genetics · 2014-02-04
pmid:24497578
Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.
Nigel A,Morrison, Alexandre A,Stephens, Motomi,Osato, Patsie,Polly, Timothy C,Tan, Namiko,Yamashita, James D,Doecke, Julie,Pasco, Nicolette,Fozzard, Graeme,Jones, Stuart H,Ralston, Philip N,Sambrook, Richard L,Prince, Geoff C,Nicholson
PloS one · 2012-08-13
pmid:22912713
Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer.
Feifei,Li, Yaojuan,Lu, Ming,Ding, Dobrawa,Napierala, Sam,Abbassi, Yuqing,Chen, Xiangyun,Duan, Siying,Wang, Brendan,Lee, Qiping,Zheng
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2011-12-01
pmid:21887706
The polycystic kidney disease 1 (Pkd1) gene is required for the responses of osteochondroprogenitor cells to midpalatal suture expansion in mice.
Bo,Hou, Elona,Kolpakova-Hart, Naomi,Fukai, Kimberly,Wu, Bjorn R,Olsen
Bone · 2009-03-02
pmid:19264154