Journal article
MSX1 and Orofacial Clefting with and without Tooth Agenesis
Journal of dental research, Vol.85(6), pp.542-546
06/2006
DOI: 10.1177/154405910608500612
PMCID: PMC2241923
PMID: 16723652
Abstract
MSX1
has been considered a strong candidate for orofacial clefting, based on mouse expression studies and knockout models, as well as association and linkage studies in humans.
MSX1
mutations are also causal for hereditary tooth agenesis. We tested the hypothesis that individuals with orofacial clefting with or without tooth agenesis have
MSX1
coding mutations by screening 33 individuals with cleft lip with or without cleft palate (CL/P) and 19 individuals with both orofacial clefting and tooth agenesis. Although no
MSX1
coding mutations were identified, the known 101C>G variant occurred more often in subjects with both CL/P and tooth agenesis (p = 0.0008), while the *6C-T variant was found more often in CL/P subjects (p = 0.001). Coding mutations in
MSX1
are not the cause of orofacial clefting with or without tooth agenesis in this study population. However, the significant association of
MSX1
with both phenotypes implies that
MSX1
regulatory elements may be mutated.
Details
- Title: Subtitle
- MSX1 and Orofacial Clefting with and without Tooth Agenesis
- Creators
- A Modesto - Dows Institute for Dental Research, College of Dentistry, University of IowaL.M Moreno - Oral Science PhD Program, College of Dentistry, University of IowaK Krahn - Dows Institute for Dental Research, College of Dentistry, University of IowaS King - formerly of College of Dentistry, The Ohio State University and currently in private practice in Centerville, OHA.C Lidral - Dows Institute for Dental Research, College of Dentistry, University of Iowa
- Resource Type
- Journal article
- Publication Details
- Journal of dental research, Vol.85(6), pp.542-546
- DOI
- 10.1177/154405910608500612
- PMID
- 16723652
- PMCID
- PMC2241923
- NLM abbreviation
- J Dent Res
- ISSN
- 0022-0345
- eISSN
- 1544-0591
- Language
- English
- Date published
- 06/2006
- Academic Unit
- Orthodontics; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984065704202771
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