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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

Pedigree, clinical photographs, and panoramic radiograph of the family. (a) Pedigree of the family. Consanguineous marriages are indicated with double lines. Family members who participated in this study are indicated under the symbol (V:1, V:2, VI:1, and VI:2). Proband is indicated with black arrow. (b) Frontal clinical photograph of the proband at age 8. (c) Frontal clinical photograph of the proband at age 10. Maxillary and mandibular anterior permanent teeth are restored with direct resin composite. (d) Maxillary clinical photograph of the proband at age 10. (e) Mandibular clinical photograph of the proband at age 10. Enamel is generally thin with some area of pitted pigmentation. Thicker enamel can be seen in the cervical part of the molar teeth. (f) Panoramic radiograph of the proband at age 8. The reduced thickness and radiodensity of the enamel can be seen in the developing permanent teeth.
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fig01: Pedigree, clinical photographs, and panoramic radiograph of the family. (a) Pedigree of the family. Consanguineous marriages are indicated with double lines. Family members who participated in this study are indicated under the symbol (V:1, V:2, VI:1, and VI:2). Proband is indicated with black arrow. (b) Frontal clinical photograph of the proband at age 8. (c) Frontal clinical photograph of the proband at age 10. Maxillary and mandibular anterior permanent teeth are restored with direct resin composite. (d) Maxillary clinical photograph of the proband at age 10. (e) Mandibular clinical photograph of the proband at age 10. Enamel is generally thin with some area of pitted pigmentation. Thicker enamel can be seen in the cervical part of the molar teeth. (f) Panoramic radiograph of the proband at age 8. The reduced thickness and radiodensity of the enamel can be seen in the developing permanent teeth.

Mentions: DNA was isolated from peripheral whole blood of the participating family members using the QuickGene DNA whole blood kit S with the QuickGene-Mini80 equipment (Fujifilm, Tokyo, Japan). All family members (V:1, V:2, VI:1, and VI:2) (Figure1) were genotyped with the Affymetrix Genome-Wide Human SNP array 6.0 by Macrogen (Seoul, Korea). The annotated SNP files were analyzed with HomozygosityMapper (http://www.homozygositymapper.org/) to identify the region of homozygosity in the proband.


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)

Pedigree, clinical photographs, and panoramic radiograph of the family. (a) Pedigree of the family. Consanguineous marriages are indicated with double lines. Family members who participated in this study are indicated under the symbol (V:1, V:2, VI:1, and VI:2). Proband is indicated with black arrow. (b) Frontal clinical photograph of the proband at age 8. (c) Frontal clinical photograph of the proband at age 10. Maxillary and mandibular anterior permanent teeth are restored with direct resin composite. (d) Maxillary clinical photograph of the proband at age 10. (e) Mandibular clinical photograph of the proband at age 10. Enamel is generally thin with some area of pitted pigmentation. Thicker enamel can be seen in the cervical part of the molar teeth. (f) Panoramic radiograph of the proband at age 8. The reduced thickness and radiodensity of the enamel can be seen in the developing permanent teeth.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

fig01: Pedigree, clinical photographs, and panoramic radiograph of the family. (a) Pedigree of the family. Consanguineous marriages are indicated with double lines. Family members who participated in this study are indicated under the symbol (V:1, V:2, VI:1, and VI:2). Proband is indicated with black arrow. (b) Frontal clinical photograph of the proband at age 8. (c) Frontal clinical photograph of the proband at age 10. Maxillary and mandibular anterior permanent teeth are restored with direct resin composite. (d) Maxillary clinical photograph of the proband at age 10. (e) Mandibular clinical photograph of the proband at age 10. Enamel is generally thin with some area of pitted pigmentation. Thicker enamel can be seen in the cervical part of the molar teeth. (f) Panoramic radiograph of the proband at age 8. The reduced thickness and radiodensity of the enamel can be seen in the developing permanent teeth.
Mentions: DNA was isolated from peripheral whole blood of the participating family members using the QuickGene DNA whole blood kit S with the QuickGene-Mini80 equipment (Fujifilm, Tokyo, Japan). All family members (V:1, V:2, VI:1, and VI:2) (Figure1) were genotyped with the Affymetrix Genome-Wide Human SNP array 6.0 by Macrogen (Seoul, Korea). The annotated SNP files were analyzed with HomozygosityMapper (http://www.homozygositymapper.org/) to identify the region of homozygosity in the proband.

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