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Oro-dental phenotype in patients with RUNX2 duplication.

Abstract：

:Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phenotype of four patients of a unique family with a 285 kb duplication including the entire sequence of RUNX2, likely responsible for three functional copies of the gene, leading to an increased RUNX2 dosage. Several dental anomalies of number (hypodontia or oligodontia), morphology (microdontia, radiculomegaly, taurodontism or dens invaginatus) and tooth position (rotation) were found in these patients.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Merametdjian L,Prud'Homme T,Le Caignec C,Isidor B,Lopez-Cazaux S

doi

10.1016/j.ejmg.2018.05.019

subject

Has Abstract

pub_date

2019-02-01 00:00:00

pages

85-89

issue

2

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(18)30077-6

journal_volume

62

pub_type

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