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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

Cell | May 30, 1997

Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.

Pubmed ID: 9182765 RIS Download

Mesh terms: Alleles | Amino Acid Sequence | Animals | Base Sequence | Chromosomes, Human, Pair 6 | Cleidocranial Dysplasia | Core Binding Factor Alpha 1 Subunit | Gene Deletion | Humans | Mice | Molecular Sequence Data | Neoplasm Proteins | Transcription Factors

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Associated grants

  • Agency: NIAMS NIH HHS, Id: AR 36819
  • Agency: NIAMS NIH HHS, Id: AR35820
  • Agency: NICHD NIH HHS, Id: HD 18658

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