title: A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.
abstract: Amelogenesis imperfecta (AI) is a collection of diseases characterized by hereditary enamel defects and is heterogeneous in genetic etiology and clinical phenotype. In this study, we recruited a nuclear AI family with a proband having unique irregular hypoplastic pits and grooves in all surfaces of the deciduous molar teeth but not in the deciduous anterior teeth. Based on the candidate gene approach, we screened the laminin subunit beta 3 (LAMB3) gene and identified a novel de novo mutation in the proband. The mutation was a frameshift mutation caused by a heterozygous 7-bp deletion in the last exon (c.3452_3458delAGAAGCG, p.Glu1151Valfs*57). This study not only expands the mutational spectrum of the LAMB3 gene causing isolated AI but also broadens the understanding of genotype-phenotype correlations.
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Young-Jae
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Teo J
authors.initials: TJ
authors.lastname: Shin
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Hong-Keun
authors.initials: HK
authors.lastname: Hyun
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Sang-Hoon
authors.initials: SH
authors.lastname: Lee
authors.affiliation: Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Zang H
authors.initials: ZH
authors.lastname: Lee
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.|Department of Molecular Genetics & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Jung-Wook
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008963:Molar; D009154:Mutation; D000097794:Kalinin
chemical_list: D015815:Cell Adhesion Molecules; D000097794:Kalinin
keywords: LAMB3; enamel; genetic diseases; hereditary; mutation