Pm. Collier et al., AN AMELOGENIN GENE DEFECT ASSOCIATED WITH HUMAN X-LINKED AMELOGENESISIMPERFECTA, Archives of oral biology, 42(3), 1997, pp. 235-242
Dental enamel is a product of ameloblast cells, which secrete a minera
lizing organic matrix, composed primarily of amelogenin proteins. The
amelogenins are thought to be crucial for development of normal, highl
y mineralized enamel. The X-chromosomal amelogenin gene is a candidate
gene for those cases of amelogenesis imperfecta, resulting in defecti
ve 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 cha
nge in exon 6 of the X-chromosomal amelogenin gene in three affected i
ndividuals, a change not found in unaffected members of the kindred. T
he proline that is changed by the mutation is conserved in amelogenin
genes from all species examined to date. (C) 1997 Elsevier Science Ltd
.