Identification of RUNX2 variants associated with cleidocranial dysplasia
نویسندگان
چکیده
منابع مشابه
RUNX2 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 ...
متن کاملIdentification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
متن کاملRUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases...
متن کاملIdentification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is a rare, well-defined skeletal disorder with autosomal dominant inheritance and complete penetrance. Although it involves the whole skeletal system, the main clinical manifestations of CCD are malformations of the skull and clavicles, which lead to a typical appearance of the face and shoulders. Dental aspects are particularly evident and often eruption difficult...
متن کاملNovel mutation of RUNX2 gene in a patient with cleidocranial dysplasia.
BACKGROUND Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 (RUNX2). Here we report a 52 year-old woman with cleidocranial dysplasia due to a novel RUNX2 mutation. CASE DESCRIPTION A 52 year-old Han Chinese woman presented with short stature and skeletal dysplasia th...
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ژورنال
عنوان ژورنال: Hereditas
سال: 2019
ISSN: 1601-5223
DOI: 10.1186/s41065-019-0107-7