Scully Allison, Zhang Hong, Kim-Berman Hera, Benavides Erika, Hardy Nina C, Hu Jan C-C
Dr. Scully an assistant professor, Department of Pediatric Dentistry, Indiana University School of Dentistry, Indianapolis, Ind., USA;, Email:
Dr. Zhang a postdoctoral fellow, Dental Research Lab, Department of Orthodontic and Pediatric Dentistry and University of Michigan School of Dentistry, Ann Arbor, Mich., USA.
Pediatr Dent. 2020 Jan 15;42(1):58-61.
Supernumerary teeth are commonly observed as an isolated developmental anomaly. While the familial tendency of supernumerary teeth has been documented, its genetic causality has not yet been determined. The purpose of this paper was to presents two cases with supernumerary teeth and the process leading to the diagnosis and determination of their underlying conditions. Cases were evaluated and family histories reviewed. Genetic counseling was recommended for the probands and followed by genetic testing of selected family members. The proband of family one, who has multiple supernumerary teeth, was determined to have a RUNX2 missense mutation (c.379C>T, p. Pro127Ser) and diagnosed with cleidocranial dysplasia. The proband of family two, who has a premolar region supernumerary tooth, was reported to have no bone defects also presented with a RUNX2 missense mutation (c.1381G>C, p. Gly461Arg). When patients present with multiple supernumerary teeth, a recommendation and guidance to genetic counseling and testing may facilitate accurate diagnosis and management.
额外牙通常被视为一种孤立的发育异常。虽然额外牙的家族倾向已有文献记载,但其遗传病因尚未确定。本文旨在介绍两例额外牙病例以及导致诊断和确定其潜在病情的过程。对病例进行了评估并查阅了家族史。为先证者提供了遗传咨询,随后对选定的家庭成员进行了基因检测。家族一中有多个额外牙的先证者被确定存在RUNX2错义突变(c.379C>T,p.Pro127Ser),并被诊断为锁骨颅骨发育不全。家族二中有一颗前磨牙区额外牙的先证者,虽无骨缺陷,但也存在RUNX2错义突变(c.1381G>C,p.Gly461Arg)。当患者出现多个额外牙时,提供遗传咨询和检测的建议与指导可能有助于准确诊断和管理。