Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars
Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars
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DOI：
10.1016/j.archoralbio.2012.01.003
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发表时间：
2012-06-01
影响因子：
3
通讯作者：
Jagodzinski, Pawel P.
中科院分区：
文献类型：
--
作者：
Mostowska, Adrianna;Biedziak, Barbara;Jagodzinski, Pawel P.
目的：牙齿发育不全是人类最常见的牙列发育异常，其病因涉及遗传和环境因素。本研究的目的是寻找一个家庭的第二前磨牙和第三磨牙发育不全的先天性缺牙的因果突变。设计：直接测序的编码区，包括外显子-内含子边界的MSX 1和PAX 9基因进行了所有受影响的家庭members.Results：新的杂合突变分离在常染色体显性模型中的MSX 1基因。这种c.T671C转换导致在位置224处亮氨酸被脯氨酸取代，其是高度保守的同源结构域的倒数第二个氨基酸残基。没有一个对照组（600条染色体）是这种新的载体，可能会损害蛋白质功能，mutation.Conclusions：我们的研究结果表明，MSX 1可能发挥重大作用，在家族性病例缺牙只涉及第二前磨牙和第三磨牙。新的c.T671C突变可能是MSX 1基因的病因变异，负责测试家庭中缺乏恒牙。(C)2012爱思唯尔有限公司保留所有权利。
Objective: Tooth agenesis is the most common developmental anomaly of the human dentition, with aetiology involving both genetic and environmental factors. The aim of the study was to search for casual mutations underlying hypodontia in a family with agenesis of the second premolars and third molars.Design: Direct sequencing of the coding regions including exon-intron boundaries of the MSX1 and PAX9 genes was performed in all affected family members.Results: Novel heterozygous mutation segregating in an autosomal dominant model was identified in the MSX1 gene. This c.T671C transition leads to a substitution of leucine by proline at position 224, which is the penultimate amino acid residue of the highly conserved homeodomain. None of the control subjects (600 chromosomes) were carriers of this novel, probably damaging to protein function, mutation.Conclusions: Our results demonstrate for the first time that MSX1 might play a substantial role in familial cases of hypodontia involving only second premolars and third molars. The novel c.T671C mutation might be the etiological variant of the MSX1 gene responsible for the lack of permanent teeth in the tested family. (C) 2012 Elsevier Ltd. All rights reserved.