RUNX2 Nonsense Mutation Associated with Cleidocranial Dysplasia with Unusual Dental Features.

Autor:	Barbosa Lima R; Dr. Lima is a graduate student, Department of Pediatric Clinics, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., de Souza Furtado TC; Dr. Furtado is a graduate student, Department of Pediatric Clinics, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Nelson-Filho P; Dr. Nelson-Filho is a professor, Department of Pediatric Clinics, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Assed Bezerra da Silva R; Dr. da Silva is a professor, Department of Pediatric Clinics, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Wanderley Garcia Paula-Silva F; Dr. Paula-Silva is an associate professor, Department of Pediatric Clinics, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Kitazono de Carvalho F; Dr. de Carvalho is an assistant professor, Department of Pediatric Clinics, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Mussolino de Queiroz A; Dr. de Queiroz is a professor, Department of Pediatric Clinics, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil;, Email: amqueiroz@forp.usp.br.
Jazyk:	angličtina
Zdroj:	Journal of dentistry for children (Chicago, Ill.) [J Dent Child (Chic)] 2022 May 15; Vol. 89 (2), pp. 126-129.
Abstrakt:	Purpose: The purpose of this case report is to describe a RUNX2 nonsense mutation associated with cleidocranial dysplasia (CCD) with unusual dental features. The patient was a 12-year-old Brazilian girl who sought dental care due to over-retention of primary teeth and absence of erupted permanent teeth. Clinical and radiographic examinations revealed multiple impacted permanent teeth, a prominent cingulum of the permanent impacted maxillary incisors and enamel defects (hypoplasia and hypomineralization) in addition to skeletal abnormalities. No supernumerary teeth were present. The diagnostic hypothesis of CCD was raised and the patient was refer- red to the genetic medical service, where the diagnosis was cofirmed. After RUNX2 genetic screening, including polymerase chain reaction and sequencing of both DNA strands, a heterozygous nonsense mutation was identified in exon 2 (c.193 C>T [Q65X]). This article reports unusual dental features in a patient with CCD.
Databáze:	MEDLINE
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