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Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia.

Authors: Mu, Y  Xu, Z  Contreras, C I  McDaniel, J S  Donly, K J  Chen, S 
Citation: Mu Y, etal., Genet Mol Res. 2012 Nov 28;11(4):4110-20. doi: 10.4238/2012.September.25.5.
Pubmed: (View Article at PubMed) PMID:23079991
DOI: Full-text: DOI:10.4238/2012.September.25.5

Both BMP2 and BMP4 are involved in tooth development. We examined phenotypes and BMP2 and BMP4 gene variations in two Mexican oligodontia families. Physical and oral examinations and panoramic radiographs were performed on affected and unaffected members in these two families. The affected members lacked six or more teeth. DNA sequencing was performed to detect BMP2 and BMP4 gene variations. Three single nucleotide polymorphisms (SNPs) in BMP2 and BMP4 genes were identified in the two families, including one synonymous and two missense SNPs: BMP2 c261A>G, pS87S, BMP2 c570A>T, pR190S, and BMP4 c455T>C, pV152A. Among the six affected patients, 67% carried "GG" or "AG" genotype in BMP2 c261A>G and four were "TT" or "AT" genotype in BMP2 c570A>T (pR190S). Polymorphism of BMP4 c455T>C resulted in amino acid changes of Val/Ala (pV152A). BMP2 c261A>G and BMP4 c455T>C affect mRNA stability. This was the first time that BMP2 and BMP4 SNPs were observed in Mexican oligodontia families.

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RGD Object Information
RGD ID: 13446405
Created: 2017-11-07
Species: All species
Last Modified: 2017-11-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.