title: [Gene mutation detection in a cleidocranial dysplasia family].
abstract: OBJECTIVE
  To study gene mutation in Chinese patients with cleidocranial dysplasia.
  
  
  METHODS
  A three generation family with the clinical diagnosis of cleidocranial dysplasia was investigated in present study. Genomic DNA was extracted from peripheral blood samples of each of the family members. Direct sequencing of the PCR products of the coding region of CBFA1 gene was used to identify the mutations.
  
  
  RESULTS
  In each patient of the family, a heterozygous missense mutation, cDNA 674 G > A (R225Q), was detected in CBFA1 exon 3. The mutation changed the sequence in runt domain of the protein.
  
  
  CONCLUSIONS
  Our findings indicate that mutation in CBFA1 is responsible for the tooth agenesis and other phenotypes of cleidocranial dysplasia in this Chinese family. The mutation detection could be applied in prenatal diagnosis for the family.
authors.affiliation: Department of Prosthodontics, Peking University School of Stomatology, Beijing 100081, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Hua
authors.initials: H
authors.lastname: Wu
authors.forename: Xiao-xia
authors.initials: XX
authors.lastname: Zhang
authors.forename: Hong-shan
authors.initials: HS
authors.lastname: Zhao
authors.forename: Hai-lan
authors.initials: HL
authors.lastname: Feng
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002648:Child; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D018126:Odontodysplasia / Q000235:genetics*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit