Hipodonti/oligodonti sendromu, ailesel
"Tooth agenesis" sendromu
Kalıtsal - AR
Tümünde genel ortak bulgu vücut kılları ve tırnak etkilenmeleri
9 fenotip
Tek ortak bulgu: 8 fenotipte hipodonti, 1 fenotipte oligodonti
Fenotipe göre değişen bulgular: dişlerde biçim bozukluğu, dudak yarığı, damak yarığı, deri bulguları, kaş ve saç kılları seyrekliği, kısa kirpikler, tırnaklarda yapısal bozukluklar
Fenotip1: Hipodonti/Yarık damak
Fenotip2: Hipodonti, Mine hipoplazisi
Fenotip3: Oligodonti (sürekli dişler)
Fenotip4: Hipodonti
Fenotip5: Hipodonti (sürekli)
Fenotip7: Oligodonti (sürekli)
Fenotip8: Hipodonti (sürekli), Konik dişler, Küreksi dişler
Fenotip9: Hipodonti (sürekli)
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Vastardis H, Karimbux N, Guthua SW, et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nature Genetics, 13: 417-421, 1996
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Ahmad W, Brancolini V, Faiyaz ul Haque M, et al. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. (Letter) American Journal of Human Genetics, 62: 987-991, 1998
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Wang H, Zhao S, Zhao W, et al. Congenital absence of permanent teeth in a six-generation Chinese kindred. American Journal of Medical Genetics, 90: 193-198, 2000
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Lidral AC, Reising BC. The role of MXS1 in human tooth agenesis. Journal of Dental Research, 81: 274-278, 2002
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Kim J-W, Simmer JP, Lin BP-J, Hu JC-C. Novel MSX1 frameshift causes autosomal-dominant oligodontia. Journal of Dental Research, 85: 267-271, 2006
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Mostowska A, Biedziak B, Trzeciak WH. A novel mutation in PAX9 causes familial form of molar oligodontia. European Journal of Human Genetics, 14: 173-179, 2006
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Kapadia H, Frazier-Bowers S, Ogawa T, D'Souza RN. Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. European Journal of Human Genetics, 14: 403-409, 2006
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Tarpey P, Pemberton TJ, Stockton DW, et al. A novel gln358glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. American Journal of Medical Genetics, 143A: 390-394, 2007
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van den Boogaard M-J, Creton M, Bronkhorst Y, et al. Mutations in WNT10A are present in more than half of isolated hypodontia cases. Journal of Medical Genetics, 49: 327-331, 2012
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Plaisancie J, Bailleul-Forestier I, Gaston V, et al. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. American Journal of Medical Genetics, 161A: 671-678, 2013
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Kantaputra, P. N., Kaewgahya, M., Hatsadaloi, A., Vogel, P., Kawasaki, K., Ohazama, A., Ketudat Cains, J. R. GREMLIN 2 mutations and dental anomalies. J. Dent. Res. 94: 1646-1652, 2015 Kantaputra, P. N., Kaewgahya, M., Hatsadaloi, A., Vogel, P., Kawasaki, K., Ohazama, A., Ketudat Cains, J. R. GREMLIN 2 mutations and dental anomalies. J. Dent. Res. 94: 1646-1652, 2015Kantaputra PN, Kaewgahya M, Hatsadaloi A, et al. GREMLIN 2 mutations and dental anomalies. Journal of Dental Research, 94: 1646-1652, 2015
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Yu P, Yang W, Han D, et al. Mutations in WNT10B are identified in individuals with oligodontia. American Journal of Human Genetics, 99: 195-201, 2016