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Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Choung, P.-H | - |
dc.contributor.author | Hyun, H.-K | - |
dc.contributor.author | Lee, S.-K | - |
dc.contributor.author | Lee, K.-E | - |
dc.contributor.author | Kang, H.-Y | - |
dc.contributor.author | Kim, E.-J | - |
dc.contributor.author | Kim, J.-W | - |
dc.date.accessioned | 2010-08-02 | - |
dc.date.available | 2010-08-02 | - |
dc.date.issued | 2009-10 | - |
dc.identifier.citation | International Endontic Journal 42, 1039-1043 | en |
dc.identifier.issn | 0143-2885 | - |
dc.identifier.uri | https://hdl.handle.net/10371/68814 | - |
dc.description.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. | en |
dc.description.sponsorship | This research
was supported by the Korea Science and Engineering Foundation (KOSEF) through the National Research Lab. Program funded by the Ministry of Education, Science and Technology (No. M1060000283- 06J0000-28310) and the Korea Science and Engineering Foundation (KOSEF) grant funded by the Korea government (MEST) (No. R01-2008-000-10174- 0(2008). | en |
dc.language.iso | en | en |
dc.publisher | Wiley-Blackwell | en |
dc.subject | amelogenesis imperfect | en |
dc.subject | dentin | en |
dc.subject | enamel | en |
dc.subject | FAM83H | en |
dc.subject | microhardness | en |
dc.subject | mutation | en |
dc.title | Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 정필훈 | - |
dc.identifier.doi | 10.1111/j.1365-2591.2009.01617.x | - |
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