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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)

 

• Vastardis H, Karimbux N, Guthua SW, et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nature Genetics, 13: 417-421, 1996

• 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

• 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

• Lidral AC, Reising BC. The role of MXS1 in human tooth agenesis. Journal of Dental Research, 81: 274-278, 2002

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

 

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