title: Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
abstract: We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522insA, c.389G>A (W130X), c.662T>G (V221G), IVS2+T>A, c.1111_1129del19, and c.873_874delCA]. We did not establish a clear correlation between clinical features and genotype, the phenotypes of all patients analyzed falling within the range of variation described in CCD without an effect related to the length of the predicted protein. In two cases, however, a limb-girdle myopathy affecting the shoulder muscles was also identified. Our data add new variants to the repertoire of RUNX2 mutations in CCD.
authors.affiliation: Molecular Medicine and Genetics, IRCCS-Bambino Gesù, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Sergio
authors.initials: S
authors.lastname: Salvi
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Silvia
authors.initials: S
authors.lastname: Di Giandomenico
authors.forename: Manuela
authors.initials: M
authors.lastname: Valoppi
authors.forename: Gaetano S
authors.initials: GS
authors.lastname: Grieco
authors.forename: Giovanna
authors.initials: G
authors.lastname: Comanducci
authors.forename: Giacomo
authors.initials: G
authors.lastname: Bianchini
authors.forename: Daniela
authors.initials: D
authors.lastname: Fortini
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.forename: Aldo
authors.initials: A
authors.lastname: Giannotti
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D002478:Cells, Cultured; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D005260:Female; D005347:Fibroblasts / Q000737:chemistry / Q000378:metabolism; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins; D012189:Retrospective Studies; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors