Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis
نویسندگان
چکیده
منابع مشابه
Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities
Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP) cause DD type II and DGI types II and III. DGI type I is the oral manifestation of osteogenesis imperfecta (OI), a systemic disease typically caused by defects in COL1A1 or COL1A2...
متن کاملCharacterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis
Transcription factors PAX9 and MSX1 play crucial roles in the development of permanent teeth at the bud stage, and their loss-of-function variants have been associated with congenital tooth agenesis. We sequenced the coding regions of the PAX9 and MSX1 genes from nine patients with non-syndromic tooth agenesis, and identified a missense mutation, P20L, of PAX9 in a single familial case involvin...
متن کاملA novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.
OBJECTIVE Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare hereditary disorder characterized by hyperphosphataemia, inappropriately normal or elevated 1,25-dihydroxyvitamin D(3) and localized painful cortical hyperostosis. HHS was shown to be caused by inactivating mutations in GALNT3, encoding UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-t...
متن کاملNovel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.
OBJECTIVES Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene vari...
متن کاملGenetic Characterization of Hereditary, Sporadic, Dental Agenesis: Research on Pax9 and Msx1 Genes Mutation
Objectives:The aim of this study is to find some genetic aspects of dental agenesis and, in particular, to analyze mutations in the MSX1 and PAX9 genes in individuals with non-syndromic dental agenesis. The aim is to enhance our understanding of the genetic basis of these anomalies and to provide an epidemiological overview regarding the incidence of agenesis in the population, by innovative, m...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2006
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201574