Lopez Sofia I N, Mundstock Karina S, Paixão-Côrtes Vanessa R, Schüler-Faccini Lavínia, Mundstock Carlos A, Bortolini Maria Cátira, Salzano Francisco M
Department of Orthodontics, School of Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Twin Res Hum Genet. 2013 Dec;16(6):1112-6. doi: 10.1017/thg.2013.69. Epub 2013 Oct 9.
Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait's expression.
恒牙非综合征性牙胚缺失是人类发育中最常见的异常之一，是一种由遗传和环境因素引起的多因素特征。我们描述了一对单卵双胞胎，他们表现出第二前磨牙和第三磨牙缺失，尽管表现形式不同。我们研究了两个基因的DNA，即配对结构域盒基因9（PAX9）和肌肉节段同源异型盒1（MSX1），它们编码转录因子，早期研究发现这些转录因子与这种情况的表现有关。未发现特定的致病突变。然而，我们在两个双胞胎的MSX1外显子2中检测到C→T变化，表明这种多态性可能与该性状的表达有关。
