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Detection of a Novel Mutation in X-linked Amelogenesis Imperfecta

'Department of Child Dental Health, School of Clinical Dentistry, University of Sheffield, Claremont Crescent, Sheffield S10 2TA, UK

A.H. Brook

'Department of Child Dental Health, School of Clinical Dentistry, University of Sheffield, Claremont Crescent, Sheffield S10 2TA, UK

L. Gangemi

Department of Oral Pathology, University of Sheffield

N. Lench

Molecular Medicine Unit, St James's University Hospital, Leeds

F.S.L. Wong

Department of Oral Growth and Development, St Bartholomew's and the Royal London School of Medicine and Dentistry, London

J. Fearne

Department of Oral Growth and Development, St Bartholomew's and the Royal London School of Medicine and Dentistry, London

Z. Jackson

School of Biomedical Sciences, University of Wales

G. Foster

School of Biomedical Sciences, University of Wales

B.M.J. Stringer

Department of Oral Pathology, University of Sheffield

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders of defective enamel formation. The major protein involved in enamel formation, amelogenin, is encoded by a gene located at Xp22.1-Xp22.3. This study investigated the molecular defect producing a combined phenotype of hypoplasia and hypomineralization in a family with the clinical features and inheritance pattern of X-linked amelogenesis imperfecta (XAI). Genomic DNA was prepared from buccal cells sampled from family members. The DNA was subjected to the polymerase chain-reaction (PCR) in the presence of a series of oligonucleotide primers designed to amplify all 7 exons of the amelogenin gene. Cloning and sequencing of the purified amplification products identified a cytosine deletion in exon VI at codon 119. The deletion resulted in a frameshift mutation, introducing a premature stop signal at codon 126, producing a truncated protein lacking the terminal 18 amino acids. Identifying mutations assists our understanding of the important functional domains within the gene, and finding another novel mutation emphasizes the need for family-specific diagnosis of amelogenesis imperfecta.

Key Words: Amelogenesis imperfecta • enamel development • mutation.

Journal of Dental Research, Vol. 79, No. 12, 1978-1982 (2000)
DOI: 10.1177/00220345000790120901


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