Patients with isolated oligo/hypodontia caused by RUNX2 duplication - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue American Journal of Medical Genetics Part A Année : 2015

Patients with isolated oligo/hypodontia caused by RUNX2 duplication

Résumé

Loss-of-function mutations of RUNX2 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 RUNX2 sequence and thus, a phenotype different from cleidocranial dysplasia. To date, two cousins with a duplication including the entire RUNX2 sequence in addition to MIR586, CLIC5 and the 5' half of SUPT3H have been reported. These patients presented with metopic synostosis and hypodontia. 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 RUNX2 and the 5' half of SUPT3H. 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 RUNX2 duplication. Interestingly, the mother and one child had isolated hypodontia without craniosynostosis, broadening the phenotype observed in patients with such duplications.

Dates et versions

hal-02517083 , version 1 (24-03-2020)

Identifiants

Citer

Arnaud Molin, Serena Lopez-Cazaux, Olivier Pichon, Marie Vincent, Bertrand Isidor, et al.. Patients with isolated oligo/hypodontia caused by RUNX2 duplication. American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1386-1390. ⟨10.1002/ajmg.a.37052⟩. ⟨hal-02517083⟩
20 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More