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Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta.

Seymen F, Lee KE, Koruyucu M, Gencay K, Bayram M, Tuna EB, Lee ZH, Kim JW - Oral Dis (2015)

Bottom Line: Clinically, the enamel was generally thin and pitted with pigmentation.Thicker enamel was noted at the cervical area of the molars.In this study, we identified a novel homozygous ITGB6 mutation causing isolated AI, and this advances the understanding of normal and pathologic enamel development.

View Article: PubMed Central - PubMed

Affiliation: Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey.

No MeSH data available.


Related in: MedlinePlus

Mutational analysis. Autozygosity mapping identified candidate regions. Among the regions, a long region of loss of heterozygosity in chromosome 2 is drawn below. The region locations and genes in the regions are shown. Sanger sequencing chromatograms of the family members are shown. Nucleotide sequences are shown above the chromatograms. A red arrow indicates the mutation (c.517G>C, p.Gly173Arg). S indicates G or C nucleotides.
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fig02: Mutational analysis. Autozygosity mapping identified candidate regions. Among the regions, a long region of loss of heterozygosity in chromosome 2 is drawn below. The region locations and genes in the regions are shown. Sanger sequencing chromatograms of the family members are shown. Nucleotide sequences are shown above the chromatograms. A red arrow indicates the mutation (c.517G>C, p.Gly173Arg). S indicates G or C nucleotides.

Mentions: The array data were first analyzed for the pathologic copy number variation (CNV), but failed to identify any possible disease-causing CNV (data not shown). Homozygosity mapping revealed 18 regions of loss of heterozygosity (Figure2). The exome data of the proband were annotated with the dbSNP build 138. Quality filtering and SNP filtering resulted in six candidate homozygous variants (Table 1). In silico analyses with Align GVGD, SIFT, Mutation Taster, and PolyPhen-2 consistently indicated that the ITGB6 variant would be deleterious. The ITGB6 variant was further analyzed with the Provean and MutPred programs, and both results also indicated a deleterious effect with significant scores (Table 2).


Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta.

Seymen F, Lee KE, Koruyucu M, Gencay K, Bayram M, Tuna EB, Lee ZH, Kim JW - Oral Dis (2015)

Mutational analysis. Autozygosity mapping identified candidate regions. Among the regions, a long region of loss of heterozygosity in chromosome 2 is drawn below. The region locations and genes in the regions are shown. Sanger sequencing chromatograms of the family members are shown. Nucleotide sequences are shown above the chromatograms. A red arrow indicates the mutation (c.517G>C, p.Gly173Arg). S indicates G or C nucleotides.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4440386&req=5

fig02: Mutational analysis. Autozygosity mapping identified candidate regions. Among the regions, a long region of loss of heterozygosity in chromosome 2 is drawn below. The region locations and genes in the regions are shown. Sanger sequencing chromatograms of the family members are shown. Nucleotide sequences are shown above the chromatograms. A red arrow indicates the mutation (c.517G>C, p.Gly173Arg). S indicates G or C nucleotides.
Mentions: The array data were first analyzed for the pathologic copy number variation (CNV), but failed to identify any possible disease-causing CNV (data not shown). Homozygosity mapping revealed 18 regions of loss of heterozygosity (Figure2). The exome data of the proband were annotated with the dbSNP build 138. Quality filtering and SNP filtering resulted in six candidate homozygous variants (Table 1). In silico analyses with Align GVGD, SIFT, Mutation Taster, and PolyPhen-2 consistently indicated that the ITGB6 variant would be deleterious. The ITGB6 variant was further analyzed with the Provean and MutPred programs, and both results also indicated a deleterious effect with significant scores (Table 2).

Bottom Line: Clinically, the enamel was generally thin and pitted with pigmentation.Thicker enamel was noted at the cervical area of the molars.In this study, we identified a novel homozygous ITGB6 mutation causing isolated AI, and this advances the understanding of normal and pathologic enamel development.

View Article: PubMed Central - PubMed

Affiliation: Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey.

No MeSH data available.


Related in: MedlinePlus