Research

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Maria CLG Santos¹ , P Suzanne Hart² , Mukundhan Ramaswami³ , Cláudia M Kanno⁴ , Thomas C Hart⁵ and Sergio RP Line⁶

¹  PHD student, Department of Morphology, Dental School of Piracicaba, State University of Campinas, Piracicaba, SP, Brazil

²  PHD, National Human Genome Research Institute, NIH Bethesda MD, USA

³  student, National Institute for Dental and Craniofacial Research, Bethesda, MD, USA

⁴  School of Dentistry of Aracatuba, University of the State of Sao Paulo, UNESP, Brazil

⁵  PHD, National Institute for Dental and Craniofacial Research, Bethesda, MD, USA

⁶  PHD, Department of Morphology, Dental School of Piracicaba, State University of Campinas, Piracicaba, SP, Brazil

author email corresponding author email

Head & Face Medicine 2007, 3:8doi:10.1186/1746-160X-3-8

Published:	31 January 2007

Abstract

Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.