A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia / 대한소아치과학회지
Journal of Korean Academy of Pediatric Dentistry
;
(4): 409-415, 2019.
Artículo
en Coreano
| WPRIM
| ID: wpr-787389
ABSTRACT
Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption.The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteogénesis
/
Diente
/
Erupción Dental
/
Diente Supernumerario
/
Factores de Transcripción
/
Exones
/
Clavícula
/
Displasia Cleidocraneal
/
Eliminación de Secuencia
/
Codón sin Sentido
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of Korean Academy of Pediatric Dentistry
Año:
2019
Tipo del documento:
Artículo
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