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Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta
Author(s) -
Hyun H.K.,
Lee S.K.,
Lee K.E.,
Kang H.Y.,
Kim E.J.,
Choung P.H.,
Kim J.W.
Publication year - 2009
Publication title -
international endodontic journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.988
H-Index - 119
eISSN - 1365-2591
pISSN - 0143-2885
DOI - 10.1111/j.1365-2591.2009.01617.x
Subject(s) - amelogenesis imperfecta , enamel paint , nonsense mutation , exon , mutation , genetics , amelogenesis , indentation hardness , molar , biology , gene , dental enamel , dentistry , medicine , materials science , composite material , missense mutation , microstructure
Aim 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. Methodology 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.