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Human Molecular Genetics, 2001, Vol. 10, No. 16 1673-1677
© 2001 Oxford University Press

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

M. Helen Rajpar, Kathryn Harley1, Chris Laing2, Robin M. Davies3 and Michael J. Dixon+

School of Biological Sciences and Department of Dental Medicine and Surgery, 3.239 Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK, 1Department of Paediatric Dentistry, Edinburgh Dental Institute, Lauriston Building, Lauriston Place, Edinburgh EH13 9YW, UK, 2Centre for Nephrology, University College London, Middlesex Hospital, Mortimer Street, London W1N 8AA, UK and 3Dental Health Unit, Manchester Science Park, Lloyd Street North, Manchester M15 4SH, UK

Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have been shown to underlie a subset of the X-linked recessive forms of AI. Although none of the genes underlying autosomal-dominant or autosomal-recessive AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q11–q21. In the current investigation, we have analysed a family with an autosomal-dominant, smooth hypoplastic form of AI. Our results have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family. This is the first autosomal-dominant form of AI for which the genetic mutation has been identified. As this type of AI is clinically distinct from that localized previously to chromosome 4q11–q21, these findings highlight the need for a molecular classification of this group of disorders.

+ To whom correspondence should be addressed. Tel: +44 161 275 5620; Fax: +44 161 275 5620; Email: mike.dixon@man.ac.uk


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