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

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Authors
Choung, P.-H; Hyun, H.-K; Lee, S.-K; Lee, K.-E; Kang, H.-Y; Kim, E.-J; Kim, J.-W
Issue Date
2009-10
Publisher
Wiley-Blackwell
Citation
International Endontic Journal 42, 1039-1043
Keywords
amelogenesis imperfectdentinenamelFAM83Hmicrohardnessmutation
Abstract
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.
ISSN
0143-2885
Language
English
URI
http://hdl.handle.net/10371/68814
DOI
https://doi.org/10.1111/j.1365-2591.2009.01617.x
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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