Disease relevance of Cleidocranial Dysplasia

• Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip [1].

High impact information on Cleidocranial Dysplasia

• Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations [2].
• Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity [3].
• Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2 [4].
• RUNX genes, neoplasia, and cleidocranial dysplasia [5].
• Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia [6].

Biological context of Cleidocranial Dysplasia

• Runx2 plays an essential role in osteogenesis, and inactivation of one allele of Runx2 is responsible for the human disease cleidocranial dysplasia [7].
• Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia [8].
• Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia [9].

Anatomical context of Cleidocranial Dysplasia

• Germ line mutations in RUNX2 have been identified in patients with an autosomal dominant skeletal disorder, cleidocranial dysplasia [10].

Gene context of Cleidocranial Dysplasia

• Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF [11].
• As part of a more comprehensive investigation of general and craniofacial development in cleidocranial dysplasia (CCD), the present study describes general somatic development and analyzes longitudinal growth of 17 patients (seven males, ten females, aged 5-46 years) with CCD [12].
• Cleidocranial dysostosis, unilateral sensorineural hearing loss and gait disturbances: a clear-cut case of diagnostic mimicry [13]?
• Cleidocranial dysplasia: Part 2--Treatment protocol for the orthodontic and surgical modality [14].
• The unique finding of a midline suture at the mandibular symphysis in cleidocranial dysplasia is presented and discussed in regard to its relation to facial skeletal development [15].

References