title: An amelogenin gene defect associated with human X-linked amelogenesis imperfecta.
abstract: Dental enamel is a product of ameloblast cells, which secrete a mineralizing organic matrix, composed primarily of amelogenin proteins. The amelogenins are thought to be crucial for development of normal, highly mineralized enamel. The X-chromosomal amelogenin gene is a candidate gene for those cases of amelogenesis imperfecta, resulting in defective enamel, in which inheritance is X-linked. In this report, a kindred is described that has a C to A mutation resulting in a pro to thr change in exon 6 of the X-chromosomal amelogenin gene in three affected individuals, a change not found in unaffected members of the kindred. The proline that is changed by the mutation is conserved in amelogenin genes from all species examined to date.
authors.affiliation: Department of Anatomy and Histology, School of Dental Medicine, University of Pennsylvania, Philadelphia 19104, USA.
authors.forename: P M
authors.initials: PM
authors.lastname: Collier
authors.forename: J J
authors.initials: JJ
authors.lastname: Sauk
authors.forename: S J
authors.initials: SJ
authors.lastname: Rosenbloom
authors.forename: Z A
authors.initials: ZA
authors.lastname: Yuan
authors.forename: C W
authors.initials: CW
authors.lastname: Gibson
mesh_terms: D000225:Adenine; D000565:Ameloblasts / Q000378:metabolism; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin; D001483:Base Sequence; D003596:Cytosine; D003743:Dental Enamel / Q000002:abnormalities / Q000378:metabolism; D003746:Dental Enamel Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics; D014083:Tooth Germ / Q000378:metabolism*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; D013912:Threonine; D003596:Cytosine; D011392:Proline; D000225:Adenine