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


METHODS
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.
Hyun
H-K
HK
Department of Pediatric Dentistry, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul, Korea.
Lee
S-K
SK
Lee
K-E
KE
Kang
H-Y
HY
Kim
E-J
EJ
Choung
P-H
PH
Kim
J-W
JW
D000566:Amelogenesis / Q000235:genetics*; D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D003743:Dental Enamel / Q000473:pathology; D003746:Dental Enamel Proteins / Q000235:genetics*; D003799:Dental Stress Analysis; D005260:Female; D005799:Genes, Dominant; D006244:Hardness; D006801:Humans; D008963:Molar / Q000473:pathology; D011506:Proteins / Q000235:genetics*; D014074:Tooth Calcification / Q000235:genetics*
D018389:Codon, Nonsense; D003746:Dental Enamel Proteins; C527308:FAM83H protein, human; D011506:Proteins