title: Novel complex disease allele mutations in cleidocranial dysplasia patients.
abstract: This study reports a novel identical complex disease allele harboring two non-synonymous mutations that were identified in two southern Chinese individuals of the same family with cleidocranial dysplasia (CCD). Blood samples were obtained from the proband, his parents, plus 100 matched control subjects. Exons 0 to 7 of the RUNX2 gene were amplified using specific primers and sequenced. Multiple sequence alignment and protein structure modeling was performed using ClustalW2 and MODBASE software while PolyPhen-2 and MutationTaster applications were employed to predict the disease-causing potential of the identified mutations. A complex disease allele in two affected individuals harboring two non-synonymous mutations in a cis-position on exons 4 (D273N) and 5 (P299L) were identified. The identified mutations were in the conserved region and changed the protein structure.
authors.affiliation: School of Dentistry, The University of Western Australia, Perth, Australia.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Anthonappa
authors.forename: Fan
authors.initials: F
authors.lastname: Yan-Hui
authors.forename: Nigel M
authors.initials: NM
authors.lastname: King
authors.forename: Abu Bakr M
authors.initials: AB
authors.lastname: Rabie
authors.forename: Song
authors.initials: S
authors.lastname: You-Qiang
mesh_terms: D000225:Adenine; D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics; D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D016022:Case-Control Studies; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D006147:Guanine; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D011392:Proline / Q000235:genetics; D011487:Protein Conformation; D013941:Thymine; D014096:Tooth, Supernumerary / Q000235:genetics
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human; D001224:Aspartic Acid; D006147:Guanine; D001216:Asparagine; D003596:Cytosine; D011392:Proline; D007930:Leucine; D000225:Adenine; D013941:Thymine
keywords: RUNX2; cleidocranial dysostosis; cleidocranial dysplasia; supernumerary teeth