title: Detection of a novel mutation in X-linked amelogenesis imperfecta.
abstract: 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.
authors.affiliation: Department of Child Dental Health, School of Clinical Dentistry, University of Sheffield, Claremont Crescent, UK.
authors.forename: S A
authors.initials: SA
authors.lastname: Kindelan
authors.forename: A H
authors.initials: AH
authors.lastname: Brook
authors.forename: L
authors.initials: L
authors.lastname: Gangemi
authors.forename: N
authors.initials: N
authors.lastname: Lench
authors.forename: F S
authors.initials: FS
authors.lastname: Wong
authors.forename: J
authors.initials: J
authors.lastname: Fearne
authors.forename: Z
authors.initials: Z
authors.lastname: Jackson
authors.forename: G
authors.initials: G
authors.lastname: Foster
authors.forename: B M
authors.initials: BM
authors.lastname: Stringer
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin; D019943:Amino Acid Substitution; D003001:Cloning, Molecular; D003596:Cytosine; D003746:Dental Enamel Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013941:Thymine; D014960:X Chromosome
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; D003596:Cytosine; D013941:Thymine