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MSX1 and Orofacial Clefting with and without Tooth Agenesis

¹ Dows Institute for Dental Research, College of Dentistry, University of Iowa;
² Pediatric Dentistry Department, College of Dentistry, Federal University of Rio de Janeiro, Brazil;
³ Oral Science PhD Program, College of Dentistry, University of Iowa;
⁴ Pediatrics Department, College of Medicine, University of Iowa;
⁵ formerly of College of Dentistry, The Ohio State University and currently in private practice in Centerville, OH;
⁶ Orthodontics Department, College of Dentistry, 2174 Medical Laboratories, University of Iowa, Iowa City, IA 52242, USA; and
⁷ formerly of Section of Orthodontics, College of Dentistry, The Ohio State University

^* corresponding author, andrew-lidral{at}uiowa.edu

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.

KEY WORDS: MSX1 • cleft lip • cleft palate • tooth agenesis

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