WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations
WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations
复制标题
DOI：
10.1002/ajmg.a.36243
复制
发表时间：
2014-02-01
影响因子：
2
通讯作者：
Dahl, Niklas
中科院分区：
文献类型：
--
作者：
Arzoo, Pakeeza Shaiq;Klar, Joakim;Dahl, Niklas
最近报道了大部分（>50%）孤立性少牙患者存在WNT 10A突变。我们分析了102名被诊断为非综合征性缺牙和平均8.2颗缺牙的个体的人群队列。该队列包括94个家系，WNT 10A筛查确定26名先证者（27.7%）至少有一个WNT 10A变异。当我们包括MSX 1，PAX 9，AXIN 2，EDA，EDAR和EDARADD基因时，38.3%的先证者对突变呈阳性。与单等位基因WNT 10突变（6.82）和没有WNT 10A、MSX 1、PAX 9、AXIN 2、EDA、EDAR或EDARADD突变的组（7.77）相比，双等位基因WNT 10A突变与大量缺失牙齿（11.09）密切相关。WNT 10A突变个体的基因型-表型分析显示，前磨牙是最常见的牙齿缺失。此外，双等位基因WNT 10A突变与上颌和下颌磨牙以及下颌中切牙缺失相关。上颌中切牙始终存在。因此，我们的研究表明，WNT 10A突变与缺失牙齿的类型和数量相关。此外，我们发现，与从牙科专家中心招募的患者相比，这个以人群为基础的孤立性少牙症队列的突变WNT 10A等位基因频率显著降低，缺牙平均数量也较低。(c)2013 Wiley Periodicals，Inc.
A large proportion (>50%) of patients with isolated oligodontia were recently reported with WNT10A mutations. We have analyzed a population-based cohort of 102 individuals diagnosed with non-syndromic oligodontia and a mean of 8.2 missing teeth. The cohort included 94 families and screening of WNT10A identified that 26 probands (27.7%) had at least one WNT10A variant. When we included the MSX1, PAX9, AXIN2, EDA, EDAR, and EDARADD genes, 38.3% of probands were positive for a mutation. Biallelic WNT10A mutations were strongly associated with a larger number of missing teeth (11.09) when compared to both monoallelic WNT10 mutations (6.82) and the group without mutations in WNT10A, MSX1, PAX9, AXIN2, EDA, EDAR, or EDARADD (7.77). Genotype-phenotype analysis of individuals with WNT10A mutations showed that premolars were the most common missing teeth. Furthermore, biallelic WNT10A mutations were associated with absence of maxillary and mandibular molars as well as mandibular central incisors. Maxillary central incisors were always present. Thus, our study indicates that WNT10A mutations are associated with both the type and numbers of missing teeth. Furthermore, we show that this population-based cohort of isolated oligodontia had a considerably lower frequency of mutated WNT10A alleles and a lower mean number of missing teeth when compared to patients recruited from dental specialist centers. (c) 2013 Wiley Periodicals, Inc.