MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.
Twin Res Hum Genet
; 16(6): 1112-6, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-24103583
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 CâT change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait's expression.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Dente
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Gêmeos Monozigóticos
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Fator de Transcrição MSX1
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Fator de Transcrição PAX9
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Anodontia
Limite:
Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Twin Res Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Reino Unido