Author/Authors :
Ghandehari Motlagh, M Dental Research Center - Tehran University of Medical Sciences , Bahaminpour, M Dental Research Center - Tehran University of Medical Sciences , Aref, P Dental Research Center - Tehran University of Medical Sciences , Pourhashemi, SJ Dental Research Center - Tehran University of Medical Sciences , Shahrabi, M Dental Research Center - Tehran University of Medical Sciences , Nazarian, AR Dept. of Medical Genetics - Tehran University of Medical Sciences , Raoofian, R Dept. of Medical Genetics - Tehran University of Medical Sciences , Mahbubinejad, F Dept. of Medical Genetics - Tehran University of Medical Sciences , Heidari, M Dept. of Medical Genetics - Tehran University of Medical Sciences
Abstract :
Background: Amelogenesis imperfecta (AI) is an inherited tooth disorder. Despite the fact that up to now, several gene
mutations in MMP20, ENAM, AMELX and KLK4 genes have been reported to be associated with AI, many other genes suggested to be involved. The main objective of this study was to find the mutations in three major candidate genes including
MMP20, ENAM and KLK4 responsible for AI from three Iranian families with generalized hypoplastic phenotype in all teeth.
Methods: All exon/intron boundaries of subjected genes were amplified by polymerase chain reaction and subjected to
direct sequencing.
Results: One polymorphisms was identified in KLK4 exon 2, in one family a homozygous mutation was found in the third
base of codon 22 for serine (TCG>TCT), but not in other families. Although these base substitutions have been occurred in
the signaling domain, they do not seem to influence the activity of KLK4 protein.
Conclusion: Our results might support the further evidence for genetic heterogeneity; at least, in some AI cases are not
caused by a gene in these reported candidate genes.
Keywords :
Amelogenesis Imperfecta , KLK4 , Polymorphism , Consanguineous marriages
