Media type: E-Article Title: Patients with isolated oligo/hypodontia caused by RUNX2 duplication Contributor: Molin, Arnaud; Lopez‐Cazaux, Serena; Pichon, Olivier; Vincent, Marie; Isidor, Bertrand; Le Caignec, Cédric imprint: Wiley, 2015 Published in: American Journal of Medical Genetics Part A Language: English DOI: 10.1002/ajmg.a.37052 ISSN: 1552-4825; 1552-4833 Keywords: Genetics (clinical) ; Genetics Origination: Footnote: Description: <jats:sec><jats:label /><jats:p>Loss‐of‐function mutations of <jats:italic>RUNX2</jats:italic> are responsible for cleidocranial dysplasia, an autosomal dominant disorder characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicles, moderate short stature and supernumerary teeth. By contrast, an increased gene dosage is expected for duplication of the entire <jats:italic>RUNX2</jats:italic> sequence and thus, a phenotype different from cleidocranial dysplasia. To date, two cousins with a duplication including the entire <jats:italic>RUNX2</jats:italic> sequence in addition to <jats:italic>MIR586</jats:italic>, <jats:italic>CLIC5</jats:italic> and the 5' half of <jats:italic>SUPT3H</jats:italic> have been reported. These patients presented with metopic synostosis and hypodontia.</jats:p><jats:p>Here, we report on a family with an affected mother and three affected children. The four patients carried a 285 kb duplication identified by array comparative genomic hybridization. The duplication includes the entire sequence of <jats:italic>RUNX2</jats:italic> and the 5′ half of <jats:italic>SUPT3H</jats:italic>. We confirmed the duplication by real‐time quantitative PCR in the four patients. Two children presented with the association of metopic craniosynostosis and oligo/hypodontia previously described, confirming the phenotype caused by <jats:italic>RUNX2</jats:italic> duplication. Interestingly, the mother and one child had isolated hypodontia without craniosynostosis, broadening the phenotype observed in patients with such duplications. © 2015 Wiley Periodicals, Inc.</jats:p></jats:sec>