MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.
نویسندگان
چکیده
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.
منابع مشابه
Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review
OBJECTIVE In the present study, it is describe the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. STUDY DESIGN Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral explo...
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Tooth agenesis denotes a condition where teeth are missing due to a developmental failure. According to severity, this malformation can be subdivided into hypodontia, oligodontia and anodontia. With a frequency of 20–30%, tooth agenesis is the most prevalent dental dysplasia, but not all teeth are equally affected. Familial occurrence and concordance in twins indicate potential genetic causes. ...
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عنوان ژورنال:
- Twin research and human genetics : the official journal of the International Society for Twin Studies
دوره 16 6 شماره
صفحات -
تاریخ انتشار 2013