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.
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.
Authors: Hui-Chen Chan; Ninna M R P Estrella; Rachel N Milkovich; Jung-Wook Kim; James P Simmer; Jan C-C Hu Journal: Eur J Oral Sci Date: 2011-12 Impact factor: 2.612
Authors: Legairre A Radden; Kevin M Child; Elisabeth B Adkins; Damek V Spacek; Aaron M Feliciano; Thomas R King Journal: BMC Res Notes Date: 2013-05-09
Authors: Claire E L Smith; James A Poulter; Agne Antanaviciute; Jennifer Kirkham; Steven J Brookes; Chris F Inglehearn; Alan J Mighell Journal: Front Physiol Date: 2017-06-26 Impact factor: 4.566
Authors: Theresa Tachie-Menson; Ana Gázquez-Gutiérrez; Luke J Fulcher; Thomas J Macartney; Nicola T Wood; Joby Varghese; Robert Gourlay; Renata F Soares; Gopal P Sapkota Journal: Cell Signal Date: 2020-04-11 Impact factor: 4.315