常染色体显性低钙化型牙釉质发育不全中一种新型FAM83H突变的鉴定及患牙的显微硬度
Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.
作者信息
Hyun H-K, Lee S-K, Lee K-E, Kang H-Y, Kim E-J, Choung P-H, Kim J-W
机构信息
Department of Pediatric Dentistry, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul, Korea.
出版信息
Int Endod J. 2009 Nov;42(11):1039-43. doi: 10.1111/j.1365-2591.2009.01617.x.
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.
目的
确定一个患有低钙化型牙釉质发育不全家族的潜在分子遗传病因，并研究已知FAM83H突变的牙釉质和牙本质硬度。
方法
基于候选基因方法对FAM83H进行突变筛查。扩增并测序所有外显子和外显子-内含子边界。进行显微硬度测试以测量维氏显微硬度值。
结果
在FAM83H的最后一个外显子中鉴定出一个新的无义突变（c.1354C>T，p.Q452X），该突变导致牙釉质柔软、未钙化。受影响的牙釉质极其柔软（约为正常对照的17%），但其下方的牙本质与正常对照一样坚硬。
结论
突变分析揭示了FAM83H基因中的一个新突变。该突变不影响牙本质硬度，而牙釉质极其柔软。
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