Candidate-gene exclusion in a family with inherited non-syndromic dental disorders |
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Authors: | Li Li Yi Shu Beiyan Lou Hongkun Wu |
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Affiliation: | 1. West China College of Stomatology, Sichuan University, Chengdu, Sichuan 610041, China;2. State Key Laboratory of Oral Diseases, Sichuan University, China |
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Abstract: | ObjectivesAmelogenesis 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.MethodsThis 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.ResultsDirect 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.ConclusionThese 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. |
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Keywords: | AI, Amelogenesis imperfecta ADAI, Amelogenesis imperfecta with autosomal dominant inheritance ARAI, Amelogenesis imperfecta with autosomal recessive inheritance X-linked AI, Amelogenesis imperfecta related to X chromosome ENAM, Enamelin DLX3, Distal-less homeobox 3 FAM83H, Family with sequence similarity 83, member H AMBN, Ameloblastin TUF1, Tuftelin KLK4, Kallikrein MMP- 20, Matrix metalloproteinase-20 AMEL, Amelogenin DGI, Dentinogenesis imperfecta DGI-I, Dentinogenesis imperfecta-I DGI-II, Dentinogenesis imperfecta-II DGI-III, Dentinogenesis imperfecta-III DD, Dentin dysplasia DD-I, Dentin dysplasia-I DD-II, Dentin dysplasia-II COL1A1, Collagen type I alpha 1 COL1A2, Collagen type I alpha 2 DSPP, Dentin sialophosphoprotein DSP, Dentinsiaioprotein DPP, Dentin phosphoprotein cM, Centimorgan STRPs, Short tandem repeat polymorphisms PCR, Polymerase chain reaction Asp(D), Aspartic acid Asn(N), Asparagine TGFβ, Transforming growth factor β BMP, Bone morphogenetic proteins FGF, Fibroblast growth factors EGF, Epidermal growth factor |
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