Oral surgery, oral medicine, oral pathology and oral radiology · 2014
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Zhang Chenzheng, Song Yaling, Bian Zhuan
Аннотация
OBJECTIVE: To analyze the ultrastructure and chemical compositions of two teeth affected by amelogenesis imperfecta (AI) with specific FAM83H mutations.
STUDY DESIGN: Mutation analysis was performed by sequencing the candidate FAM83H gene. Two extracted teeth were collected: one from a new family and the other from a previously reported family with FAM83H mutation (Q452X). The specimens were prepared for ultrastructure detection using scanning electron microscopy (SEM) and elemental analysis by energy dispersive X-ray spectrometry (EDX).
RESULTS: An FAM83H mutation R325X was identified in the new family. In the two specimens, the affected enamel showed irregular, broken, and collapsing enamel rods with decreased numbers and widened interrod spaces; the affected dentine exhibited thickened peritubular dentine and irregular, narrowed, or partially obliterated dentinal tubules. EDX analysis showed the affected enamel with a higher carbon content, nitrogen content, and carbon/oxygen ratio.
CONCLUSION: Our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation.
STUDY DESIGN: Mutation analysis was performed by sequencing the candidate FAM83H gene. Two extracted teeth were collected: one from a new family and the other from a previously reported family with FAM83H mutation (Q452X). The specimens were prepared for ultrastructure detection using scanning electron microscopy (SEM) and elemental analysis by energy dispersive X-ray spectrometry (EDX).
RESULTS: An FAM83H mutation R325X was identified in the new family. In the two specimens, the affected enamel showed irregular, broken, and collapsing enamel rods with decreased numbers and widened interrod spaces; the affected dentine exhibited thickened peritubular dentine and irregular, narrowed, or partially obliterated dentinal tubules. EDX analysis showed the affected enamel with a higher carbon content, nitrogen content, and carbon/oxygen ratio.
CONCLUSION: Our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation.