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Universitätskinderklinik,
Langenbeckstrasse 1, 55101 Mainz, Germany
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal
dominant skeletal dysplasia characterised by abnormal clavicles, patent
sutures and fontanelles, supernumerary teeth, short stature, and a
variety of other skeletal changes. The disease gene has been mapped to
chromosome 6p21 within a region containing CBFA1, a member of the runt
family of transcription factors. Mutations in the CBFA1 gene that
presumably lead to synthesis of an inactive gene product were
identified in patients with CCD. The function of CBFA1 during skeletal
development was further elucidated by the generation of mutated mice in
which the Cbfa1 gene locus was targeted.
Loss of one Cbfa1 allele (+/-) leads to a
phenotype very similar to human CCD, featuring hypoplasia of the
clavicles and patent fontanelles. Loss of both alleles (-/-) leads to a complete absence of bone owing to a lack of osteoblast differentiation. These studies show that haploinsufficiency of CBFA1 causes the CCD
phenotype. CBFA1 controls differentiation of precursor cells into
osteoblasts and is thus essential for membranous as well as
endochondral bone formation.
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