Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia
نویسندگان
چکیده
منابع مشابه
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor-encoding gene, RUNX2. To correlate different RUNX2 mutations with CCD clinical spectrum, we studied six independent Chinese CCD patients. In five patients, mutations were detected in the coding region of the RUNX2 gene, including two frameshift mutations...
متن کاملMutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disease caused by heterozygous mutations in an osteoblast-specific transcription factor, RUNX2. Mutational analyses of RUNX2 were done on 4 unrelated Chinese patients with CCD. One nonsense and 3 missense mutations were detected, including one novel mutation, a heterozygous G to C transition mutation at nucleotide 475 i...
متن کاملAnalysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese pa...
متن کاملRUNX2 mutations in cleidocranial dysplasia.
The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle formation, short stature, and dental ...
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Cleidocranial dysplasia (CCD) is a skeletal dysplasia with autosomal-dominant inheritance. The runt related transcription factor 2 (RUNX2) gene is the only gene in which mutations are known to cause CCD. We report identification of a novel small deletions mutation in the RUNX2 gene in a Chinese family with CCD. A 29-year-old female was diagnosed as proband of CCD based on the clinical findings,...
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ژورنال
عنوان ژورنال: Mutagenesis
سال: 2010
ISSN: 1464-3804,0267-8357
DOI: 10.1093/mutage/geq044