Title of article :
Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta
Author/Authors :
POURHASHEMI, S Jalal Dept. of Pediatric Dentistry - Tehran University of Medical Sciences , GHANDEHARI MOTLAGH, Mehdi Dept. of Pediatric Dentistry - Tehran University of Medical Sciences , MEIGHANI, Ghasem Dept. of Pediatric Dentistry - Tehran University of Medical Sciences , EBRAHIMI TAKALOO, Azadeh Dept. of Pediatric Dentistry - Tehran University of Medical Sciences , MANSOURI, Mahsa Dept. of Pediatric Dentistry - Tehran University of Medical Sciences , MOHANDES, Fatemeh Dept. of Pediatric Dentistry - Tehran University of Medical Sciences , MIRZAII, Maryam Dept. of Pediatric Dentistry - Tehran University of Medical Sciences , KHOSHZABAN, Ahad Dept. Bio Dental Materials - Dental Faculty of Tehran University of Medical Sciences , MOSHTAGHI, Faranak Stem Cell Preparation Unit - Farabi Eye Hospital - Tehran University of Medical Sciences , ABEDKHO-JASTEH, Hoda Stem Cell Preparation Unit - Farabi Eye Hospital - Tehran University of Medical Sciences , HEIDARI, Mansour Stem Cell Preparation Unit - Farabi Eye Hospital - Tehran University of Medical Sciences
Pages :
8
From page :
1680
To page :
1687
Abstract :
Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and FAM83H responsible for amelogenesis imperfect.Geneomic DNA was isolated from five Iranian families with 22 members affected with enamel malformations. The PCR amplifications were typically carried out for amplification the coding regions for AI patients and unaffected family members. The PCR products were subjected to direct sequencing. The pedigree analysis was performed using Cyrillic software.One family had four affected members with autosomal dominant hypocalcified amelogenesis imperfecta (ADHPCAI); pedigree analysis revealed four consanguineous families with 18 patients with autosomal recessive hypoplastic amelogenesis imperfecta (ARHPAI). One non-synonymous single-nucleotide substitution, c.1150T>A, p. Ser 342Thr was identified in the FAM83H, which resulted in ADHCAI. Furthermore, different polymorphisms or unclassified variants were detected in MMP20, ENAM and KLK4.Our results are consistent with other studies and provide further evidence for pathogenic mutations of FAM83H gene. These findings suggest different loci and genes could be implicated in the pathogenesis of AI.
Keywords :
Amelogenesis imperfecta , Iranian patients , FAM83H
Journal title :
Astroparticle Physics
Serial Year :
2014
Record number :
2419884
Link To Document :
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