A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia / 대한소아치과학회지
Journal of Korean Academy of Pediatric Dentistry
; (4): 409-415, 2019.
Article
em Ko
| WPRIM
| ID: wpr-787389
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Osteogênese
/
Dente
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Erupção Dentária
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Dente Supranumerário
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Fatores de Transcrição
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Éxons
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Clavícula
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Displasia Cleidocraniana
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Deleção de Sequência
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Códon sem Sentido
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
Ko
Revista:
Journal of Korean Academy of Pediatric Dentistry
Ano de publicação:
2019
Tipo de documento:
Article