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 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 کاملFour novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by haploinsufficiency of the RUNX2 gene. In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients. Four of seven mutations were novel: two nonsense mutations resulted in a translational stop at codon 50 (Q50X) and 112 (E112X); a missense mutation converted arginine to glycine at codon 131 (R13...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2013
ISSN: 1676-5680
DOI: 10.4238/2013.october.15.5