Open AccessNovel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia
Author(s) -
E. Z Hordyjewska,
Anna Jaruga,
Grzegorz Kandzierski,
Przemko Tylzanowski
Publication year - 2017
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000477307
Subject(s) - cleidocranial dysplasia , transactivation , runx2 , nonsense mutation , transcription factor , missense mutation , genetics , mutation , biology , gene , phenotype , microbiology and biotechnology , anatomy , supernumerary
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the RUNX2 gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in RUNX2 identified in 3 affected members of a Polish family with CCD. The localization and transcriptional transactivation studies show that the mutated form of the protein has altered the subcellular localization and significantly decreased transactivation properties, respectively. Consequently, our data show that the c.532C>T mutation generates a defective RUNX2 protein and is genetically linked to the CCD phenotype.