title: Candidate-gene exclusion in a family with inherited non-syndromic dental disorders.
abstract: OBJECTIVE
  Amelogenesis imperfecta, dentinogenesis imperfecta, and dentin dysplasia are the most common non-syndromic dental disorders. In this study, we analysed and localised the gene(s) responsible for inherited non-syndromic dental disorders in a Chinese family.
  
  
  METHODS
  This study identified and researched non-syndromic dental disorders in a four-generation Chinese family, including four affected individuals whose clinical phenotype was atypical. Linkage analysis with seven polymorphic markers that localise to six different autochromosomes showed that the family was linked through chromosome 4q. All exons and exon-intron boundaries of dentin sialophosphoprotein (DSPP), enamelin (ENAM), and ameloblastin (AMBN), which are located on chromosome 4q, were sequenced in nine of the family members.
  
  
  RESULTS
  Direct DNA sequence analysis revealed the existence of a G to A transversion in exon 4 (g.13081786G>A, c.727G>A, p.Asp243Asn, based on reference sequences NM_014208.3) of the DSPP gene, and this sequence variation correlated exactly with the presence of the disease.
  
  
  CONCLUSIONS
  These results indicate that mutation p.Asp243Asn is a highly probable cause of non-syndromic dental disorder in this Chinese family. The presence of symptom heterogeneity is possible, as the clinical classification system is hampered by the lack of close correlation between the subtype and the molecular defect.
authors.affiliation: West China College of Stomatology, Sichuan University, Chengdu, Sichuan 610041, China.
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Yi
authors.initials: Y
authors.lastname: Shu
authors.forename: Beiyan
authors.initials: B
authors.lastname: Lou
authors.forename: Hongkun
authors.initials: H
authors.lastname: Wu
mesh_terms: D001483:Base Sequence; D002681:China; D002894:Chromosomes, Human, Pair 4; D017931:DNA Primers; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D009057:Stomatognathic Diseases / Q000235:genetics*
chemical_list: D017931:DNA Primers