title: A novel single-base deletion  mutation of the RUNX2 gene in a Chinese family with cleidocranial  dysplasia.
abstract: We  identified a disease-causing mutation of the RUNX2 gene in a  four-generation Chinese family affected with cleidocranial dysplasia (CCD). For  mutation analysis, the coding region of RUNX2 was sequenced with DNA  from two patients and three unaffected family members. The RUNX2 mutation  was investigated in 50 normal controls by denaturing high pressure liquid  chromatography. A heterozygous single-base deletion (c.549delC) of RUNX2,  which predicts a termination site at the 185th codon and leads to a stop in the  runt domain of RUNX2 protein, was detected in both patients but not in the  three unaffected members of the family. This mutation was also not found in 50  controls and has not been reported previously. We demonstrated that a novel  mutation (c.549delC) of RUNX2 is associated with CCD in a Chinese  family, adding to the repertoire of RUNX2 mutations related to CCD.
authors.affiliation: Department of Stomatology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: C Y
authors.initials: CY
authors.lastname: Fang
authors.forename: J J
authors.initials: JJ
authors.lastname: Xue
authors.forename: L
authors.initials: L
authors.lastname: Tan
authors.forename: C H
authors.initials: CH
authors.lastname: Jiang
authors.forename: Q P
authors.initials: QP
authors.lastname: Gao
authors.forename: D S
authors.initials: DS
authors.lastname: Liang
authors.forename: L Q
authors.initials: LQ
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human