Title: Identification of a novel missense mutation in the RUNX2 gene in two patients with cleidocranial dysplasia from one Chinese family
Abstract: Objective To study the RUNX2 gene mutation in Chinese patients with familial cleidocranial dysplasia (CCD).Methods Two Chinese patients with CCD from one family were investigated in the present study.The patients had hypoplastic clavicles,open fontanel,and absent rami ischii.Results We screened for RUNX2 gene mutations and found one novel missense mutation(p.Arg225Gln) in the patients.No RUNX2 gene mutation was found in the DNA samples from healthy family members and 100 volunteers.Conclusion Our study extends the mutation spectrum of CCD and is helpful in early molecular diagnosis of CCD.
Publication Year: 2011
Publication Date: 2011-01-01
Language: en
Type: article
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