Oral Clefts and Syndromic Forms of Tooth Agenesis as Models for Genetics of Isolated Tooth Agenesis

Abstract

Genetic defects responsible for tooth agenesis are only now beginning to be uncovered. MSX1 and PAX9 have been associated with tooth agenesis in mice and humans, but interestingly for humans, these genes are associated with specific missing teeth. Mouse models also show that specific genes contribute to the development of specific types of teeth. A precise description of the phenotype specifying which teeth are missing has become fundamental. Mendelian segregation can be identified in families with tooth agenesis, but heterogenous or multiple genes may be responsible for the development of specific types of teeth agenesis in humans. Data from animal models are still very complex, and the human embryology is still poorly understood. Oral clefts and syndromic forms of tooth agenesis may be the best models for isolated tooth agenesis. In the future, a precise description of the missing teeth in syndromes involving tooth agenesis may be useful.

Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis

“…The reported incidence of teeth other than third molars being missing varies from 1.5 to 10% [Eidelman et al, 1973;Graber, 1978]. Autosomal dominant forms of oligodontia (agenesis of six or more teeth) have been linked to mutations or deletions in PAX9, MSX1 [reviewed by Vieira, 2003], and AXIN2 [Lammi et al, 2004]. One of the MSX1 mutations that affected a Dutch family [van den Boogaard et al, 2000] segregates with a combination of tooth agenesis, cleft lip and palate, and cleft palate only.…”

Süt Ve Dai̇mi̇ Denti̇syonda Görülen Konjeni̇tal Di̇ş Eksi̇kli̇ği̇ Ve Ai̇le İli̇şki̇si̇: 4 Olgu Sunumu

“…Bir başka görüş ise embriyonik mezenkime gelecek herhangi bir zararın diş gelişimini etkileyebileceği teorisidir 11,16 . Yapılan çalışmalarda, hücrelerin birbiri ile etkileşiminde rol alan çeşitli gen ve gen ürünlerinin diş oluşumunda etkili oldukları belirtilmektedir 7,15,17,18 . Genlerin DNA üzerinde yer alan kromozomları etkiledikleri belirtilmektedir.…”

Dentistry and Molecular Biology: A Promising Field for Tooth Agenesis Management

“…It is the most common dental anomaly, prevalent in up to 25% of the population (Bredy et al 1991). It can be part of either a syndrome or a non-syndromic familial disturbance (Vieira 2003). Although environmental factors can contribute to the phenotype of agenesis (multifactorial forms), in the majority of cases it is inherited as an autosomal-dominant trait.…”