title: ENAM mutations with incomplete penetrance.
abstract: Amelogenesis imperfecta (AI) is a genetic disease affecting tooth enamel formation. AI can be an isolated entity or a phenotype of syndromes. To date, more than 10 genes have been associated with various forms of AI. We have identified 2 unrelated Turkish families with hypoplastic AI and performed mutational analysis. Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene (c.454G>T p.Glu152* in family 1, c.358C>T p.Gln120* in family 2) in the probands. Affected individuals were heterozygous for the mutation in each family. Segregation analysis within each family revealed individuals with incomplete penetrance or extremely mild enamel phenotype, in spite of having the same mutation with the other affected individuals. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations.
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Seymen
authors.affiliation: Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: K-E
authors.initials: KE
authors.lastname: Lee
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Koruyucu
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: K
authors.initials: K
authors.lastname: Gencay
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Bayram
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: E B
authors.initials: EB
authors.lastname: Tuna
authors.affiliation: Department of Cell and Developmental Biology and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Z H
authors.initials: ZH
authors.lastname: Lee
authors.affiliation: Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea Department of Molecular Genetics and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea pedoman@snu.ac.kr.
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D002648:Child; D020090:Chromosome Segregation / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D003241:Consanguinity; D003596:Cytosine; D003743:Dental Enamel / Q000473:pathology; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D059472:Exome / Q000235:genetics; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D005973:Glutamine / Q000235:genetics; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D008297:Male; D019683:Penetrance; D010641:Phenotype; D013941:Thymine
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; C550525:ENAM protein, human; D016326:Extracellular Matrix Proteins; D005973:Glutamine; D018698:Glutamic Acid; D006147:Guanine; D003596:Cytosine; D013941:Thymine
keywords: amelogenesis imperfecta; enamel; enamelin; expressivity; hypoplastic; tooth