Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia
Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia
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DOI：
10.1111/j.1601-6343.2010.01495.x
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发表时间：
2010-11-01
影响因子：
3.1
通讯作者：
Moriyama, K.
中科院分区：
文献类型：
--
作者：
Suda, N.;Hattori, M.;Moriyama, K.
结构摘要作者-苏达N，Hattori M，Kosaki K，Banshodani A，Kozai K，Tanimoto K，Moriyama K引言-锁骨颅发育不良（CCD，MIM#119600），其负责基因是RUNX2，是一种遗传性疾病，其特征是锁骨发育不全或发育不全，未闭的和身材矮小.多生牙、恒牙萌出延迟和阻生常与CCD有关。我们先前的研究报道了与RUNX2的RUN结构域突变相关的多生牙形成的广泛家族内变异，表明基因型与多生牙形成之间的相关性较低。为了进一步阐明这一点，进行了更精确的评估。设计-对9名日本CCD患者进行了基因突变分析。根据患者检查和X线片检查牙齿和骨骼特征。结果-四个不同的基因突变，包括一个新的RUNX2基因突变（NM_001024630），被确定。其中4例为R225Q突变，3例为P224S突变，2例为不同的移码突变。多生牙的形成在具有相同基因突变的个体中观察到广泛的变化，并且在单卵双胞胎之间观察到不一致。不对称的多生牙的形成，注意到在5的9个individuals.Conclusion-具有相同的基因突变的个体表现出广泛的变化，在多生牙的形成。多生牙的形成不仅受基因型的影响，还受环境因素以及表观遗传学和拷贝数变异等复杂系统的影响。
Structured AbstractAuthors -Suda N, Hattori M, Kosaki K, Banshodani A, Kozai K, Tanimoto K, Moriyama KIntroduction -Cleidocranial dysplasia (CCD, MIM#119600), for which the responsible gene is RUNX2, is a genetic disorder characterized by hypoplasia or aplasia of the clavicles, patent fontaneles, and a short stature. Supernumerary teeth and delayed eruption and impaction of permanent teeth are frequently associated with CCD. Our previous study reported wide intrafamilial variation in supernumerary tooth formation associated with a mutation in the RUNT-domain of RUNX2, suggesting a low correlation between the genotype and supernumerary tooth formation. To further clarify this point, a more precise evaluation was performed.Design -Gene mutational analysis of nine Japanese individuals with CCD was performed. Dental and skeletal characteristics were examined based on patient examinations and radiographs.Results -Four different gene mutations, including one novel mutation in RUNX2 gene (NM_001024630), were identified. Among them, four individuals had the R225Q mutation, three siblings had the P224S mutation, and the other two individuals had different frame-shift mutations. Wide variations in supernumerary tooth formation were observed in individuals with identical gene mutations, and discordance was seen between monozygotic twins. Asymmetric supernumerary tooth formation was noted in five out of the nine individuals.Conclusion -Individuals with identical gene mutations showed a wide variation in the supernumerary tooth formation. Not only the genotype but also environmental factors and a complex system including epigenetics and copy number variation might regulate supernumerary tooth formation in CCD.