title: Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.
abstract: OBJECTIVE
  To analyze the ultrastructure and chemical compositions of two teeth affected by amelogenesis imperfecta (AI) with specific FAM83H mutations.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation.
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology and Key Laboratory of Oral Biomedicine Ministry of Education, Department of Endodontics, School and Hospital of Stomatology, Wuhan University, Wuhan, China.
authors.forename: Chenzheng
authors.initials: C
authors.lastname: Zhang
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology and Key Laboratory of Oral Biomedicine Ministry of Education, Department of Endodontics, School and Hospital of Stomatology, Wuhan University, Wuhan, China. Electronic address: sningya@whu.edu.cn.
authors.forename: Yaling
authors.initials: Y
authors.lastname: Song
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology and Key Laboratory of Oral Biomedicine Ministry of Education, Department of Endodontics, School and Hospital of Stomatology, Wuhan University, Wuhan, China. Electronic address: Bz@whuss.com.
authors.forename: Zhuan
authors.initials: Z
authors.lastname: Bian
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D003743:Dental Enamel / Q000737:chemistry / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008297:Male; D008855:Microscopy, Electron, Scanning; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D011862:Radiography, Panoramic; D013052:Spectrometry, X-Ray Emission; D055815:Young Adult
chemical_list: C527308:FAM83H protein, human; D011506:Proteins