BIOMAT Database Logo BIOMAT Database Logo

Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. 2009

H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Department of Pediatric Dentistry, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul, Korea.

OBJECTIVE To determine the underlying molecular genetic aetiology of a family with the hypocalcified form of amelogenesis imperfecta and to investigate the hardness of the enamel and dentine of a known FAM83H mutation. METHODS Mutational screening of the FAM83H on the basis of candidate gene approach was performed. All exons and exon-intron boundaries was amplified and sequenced. A microhardness test was performed to measure the Vickers microhardness value. RESULTS A novel nonsense mutation (c.1354C>T, p.Q452X) was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel. The affected enamel was extremely soft (about 17% of the normal control), but the underlying dentine was as hard as the normal control. CONCLUSIONS Mutational analysis revealed a novel mutation in FAM83H gene. Hardness of dentine was not affected by the mutation, whilst the enamel was extremely soft.

UI MeSH Term Description Entries
D008963 Molar The most posterior teeth on either side of the jaw, totaling eight in the deciduous dentition (2 on each side, upper and lower), and usually 12 in the permanent dentition (three on each side, upper and lower). They are grinding teeth, having large crowns and broad chewing surfaces. (Jablonski, Dictionary of Dentistry, 1992, p821) Molars
D011506 Proteins Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. Gene Products, Protein,Gene Proteins,Protein,Protein Gene Products,Proteins, Gene
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003743 Dental Enamel A hard thin translucent layer of calcified substance which envelops and protects the dentin of the crown of the tooth. It is the hardest substance in the body and is almost entirely composed of calcium salts. Under the microscope, it is composed of thin rods (enamel prisms) held together by cementing substance, and surrounded by an enamel sheath. (From Jablonski, Dictionary of Dentistry, 1992, p286) Enamel,Enamel Cuticle,Dental Enamels,Enamel, Dental,Enamels, Dental,Cuticle, Enamel,Cuticles, Enamel,Enamel Cuticles,Enamels
D003746 Dental Enamel Proteins The proteins that are part of the dental enamel matrix. Enamel Proteins, Dental,Proteins, Dental Enamel
D003799 Dental Stress Analysis The description and measurement of the various factors that produce physical stress upon dental restorations, prostheses, or appliances, materials associated with them, or the natural oral structures. Analyses, Dental Stress,Analysis, Dental Stress,Stress Analyses, Dental,Stress Analysis, Dental,Dental Stress Analyses
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006244 Hardness The mechanical property of material that determines its resistance to force. HARDNESS TESTS measure this property. Hardnesses

Related Publications

H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.
March 2021, Journal of dental research,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.
April 2009, Clinical genetics,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
February 2008, American journal of human genetics,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
A novel FAM83H mutation in one Chinese family with autosomal-dominant hypocalcification amelogenesis imperfecta.
October 2018, Mutagenesis,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.
January 2010, Cells, tissues, organs,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.
November 2011, International journal of paediatric dentistry,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta.
August 2003, European journal of oral sciences,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.
April 2022, Oral diseases,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.
May 2007, Archives of oral biology,
H-K Hyun, and S-K Lee, and K-E Lee, and H-Y Kang, and E-J Kim, and P-H Choung, and J-W Kim
Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.
November 2018, Oral diseases,
Copied contents to your clipboard!