Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees
Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees
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DOI：
10.1093/ejo/cjt021
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发表时间：
2014-02-01
影响因子：
2.6
通讯作者：
Carels, Carine
中科院分区：
文献类型：
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作者：
Dreesen, Karoline;Swinnen, Steven;Carels, Carine
尽管牙齿发育不全是人类牙齿最常见的发育异常，但其遗传背景和致病机制仍然知之甚少。已经描述了综合征和孤立形式的下颌畸形，可以零星发生或在家庭中发生。我们描述和分析了家族中少齿/少齿的表型变异。指数患者患有重度或轻度下颌缺损；个案-父母/兄弟姐妹记录可用。此外，我们的目的是评估家系中不同的发育模式是否可以预测基于已报道的基因型-表型关联的特定基因的突变。收集了79个家庭的牙科记录和家谱。在67个家庭中，指数患者表现为少齿畸形，在12个家庭中表现为下颌畸形。采用牙齿发育编码软件对66例少齿症患者的表型数据进行分析。九户人家有两人；一个家庭有三个成员患有少齿症。24个少齿症家族分别有1个（n 17）、2个（n 4）、3个（n 2）或4个（n 1）额外的家族成员表现为下颌畸形。77例少齿症患者中，2例表现出相同的牙齿发育模式，75例表现出独特的牙齿发育模式。尽管家族聚集和预期的孟德尔分离，在家族少齿/少齿表型中缺失牙齿的数量和牙齿发育模式在受影响的家庭成员之间是高度可变的。因此，我们假设牙齿发育不（总是）是一个简单的单基因条件，但额外的遗传或环境因素可以改变表型的表达。
Even though tooth agenesis is the most common developmental anomaly of the human dentition, its genetic background and pathogenic mechanism(s) still remain poorly understood. Syndromic and isolated forms of hypodontia have been described and can occur sporadically or in families.We describe and analyse the hypo-/oligodontia phenotype variations in families. The index patient suffers from severe or mild hypodontia; case-parents/sib records are available. Furthermore, we aim to evaluate whether the different agenesis patterns in the pedigrees are predictive of mutations in specific genes based on reported genotypephenotype associations.Dental records and pedigrees were collected from 79 families. In 67 families, the index patient presented with oligodontia while in 12 families with hypodontia. The phenotype data of 66 oligodontia index patients were analysed with the Tooth Agenesis Code software.Nine families counted two members; one family counted three members affected with oligodontia. Twenty-four oligodontia families respectively had one (n 17), two (n 4), three (n 2) or four (n 1) additional family members presenting with hypodontia. Of the 77 oligodontia cases, two showed the same tooth agenesis pattern, while 75 patients showed unique tooth agenesis patterns.Despite familial aggregation and expected Mendelian segregation, the number of missing teeth in the familial hypo-/oligodontia phenotypes and the tooth agenesis patterns are highly variable between the affected family members. Therefore, we hypothesize that tooth agenesis is not (always) a simple monogenic condition, but additional genetic or environmental factors can modify the expression of the phenotype.