An amelogenin gene defect associated with human X-linked amelogenesis imperfecta

• Published in: Archives of oral biology Vol. 42; no. 3; pp. 235 - 242
• Main Authors: Collier, P.M., Sauk, J.J., Rosenbloom, J., Yuan, Z.A., Gibson, C.W.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.03.1997
• Subjects: Adenine; Ameloblasts - metabolism; amelogenesis imperfecta; Amelogenesis Imperfecta - genetics; Amelogenin; Base Sequence; Cytosine; Dental Enamel - abnormalities; Dental Enamel - metabolism; Dental Enamel Proteins - genetics; Dentistry; enamel; Exons - genetics; Female; gene mutation; Genetic Linkage - genetics; Humans; Male; PCR; Pedigree; Point Mutation - genetics; polymerase chain reaction; Proline - genetics; Threonine - genetics; Tooth Germ - metabolism; X Chromosome - genetics; enamel; amelogenin; gene mutation; PCR; amelogenesis imperfecta
• ISSN: 0003-9969; 1879-1506
• DOI: 10.1016/S0003-9969(96)00099-4

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.