A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1:: is it responsible for oligodontia?
A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1:: is it responsible for oligodontia?
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DOI：
10.1007/bf03194616
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发表时间：
2006-01-01
影响因子：
2.4
通讯作者：
Trzeciak, WH
中科院分区：
文献类型：
--
作者：
Mostowska, A;Biedziak, B;Trzeciak, WH
尽管选择性牙齿缺失是人类牙列最常见的发育异常，但其遗传背景仍鲜为人知。迄今为止，Msx1、PAX9、AXIN2和转化生长因子α基因的突变或多态与家族性和散发性的缺牙和缺牙有关，它们的蛋白产物在牙齿的形成中起着至关重要的作用。在本报告中，我们描述了一种新的Msx1突变，这可能是导致我们先证者缺少14颗恒牙的原因。然而，这种位于高度保守的Msx1同源框序列中的c.581C>；T转换，也在先证者家族中的2名健康个体中被发现。我们的发现表明，这种转变可能是第一个被描述的Msx1突变，可能导致牙齿缺失并表现出不完全外露。这也可能支持这样一种观点，即人类牙列的这种常见异常可能是由不同基因同时突变引起的少基因特征。
Even though selective tooth agenesis is the most common developmental anomaly of human dentition, its genetic background still remains poorly understood. To date, familial as well as sporadic forms of both hypodontia and oligodontia have been associated with mutations or polymorphisms of MSX1, PAX9, AXIN2 and TGF alpha, whose protein products play a crucial role in odontogenesis. In the present report we described a novel mutation of MSX1, which might be responsible for the lack of 14 permanent teeth in our proband. However, this c.581C > T transition, localized in a highly conserved homeobox sequence of MSX1, was identified also in 2 healthy individuals from the proband's family. Our finding suggests that this transition might be the first described mutation of MSX1 that might be responsible for oligodontia and showing incomplete penetrance. It may also support the view that this common anomaly of human dentition might be an oligogenic trait caused by simultaneous mutations of different genes.