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The Role of the Latent TGF-β‎ Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abnormalities 

The Role of the Latent TGF-β‎ Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abnormalities
Chapter:
The Role of the Latent TGF-β‎ Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abnormalities
Author(s):

Muhammad Ayub

, Abdul Noor

, and John B. Vincent

DOI:
10.1093/med/9780199934522.003.0057
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date: 09 March 2021

Selective tooth agenesis of one or more teeth (STHAG; MIM 106600) is among the most common congenital abnormalities of human dentition. It affects permanent rather than deciduous dentition. Tooth agenesis may be caused by environmental factors, or as a part of a genetic syndrome, or as an oral-specific genetic trait. Teeth agenesis may lead to hypodontia (the absence of one to few teeth) oligodontia (more than 6 teeth missing, excluding the 3rd molars); an extreme case of hypodontia is anodontia characterized by absence of all teeth. The non-syndromic familial or sporadic forms of selective tooth agenesis have previously been shown to be associated with mutations in the MSX1 (STHAG1; MIM 106600; Vastardis et al, 1996) and PAX9 (STHAG3; MIM 604625; Stockton et al, 2000) genes, and typically in an autosomal-dominant fashion. Mutations of the WNT10A gene are believed to cause STHAG4 (MIM 150400) in autosomal dominant or recessive inheritance (Van den Boogaard et al, 2012). Mutations of EDA on Xq13.1 lead to an X-linked form of STHAG (STHAGX1: MIM 313500; Tao et al, 2006). Additional loci are believed to exist on chromosome 16q12.1 (STHAG2 (MIM 602639); Ahmad et al, 1998) and 10q11.2 (STHAG5 (MIM 610926; Liu et al, 2001). A new locus, STHAG6 (MIM 613097), was localized to 11p12-q13.3 by homozygosity-by-descent mapping in a consanguineous Pakistani family with autosomal recessive oligodontia. A homozygous truncating DNA sequence variant in the Latent TGF-β‎ Binding Protein 3 gene, LTBP3, was identified in affected members of this family. Here we describe research relating to LTBP3 in oligodontia, and the role of LTBP3 in bone and tooth development.

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