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Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome  James O'Sullivan, Carolina C.

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Presentation on theme: "Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome  James O'Sullivan, Carolina C."— Presentation transcript:

1 Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome  James O'Sullivan, Carolina C. Bitu, Sarah B. Daly, Jill E. Urquhart, Martin J. Barron, Sanjeev S. Bhaskar, Hercilio Martelli-Júnior, Pedro Eleuterio dos Santos Neto, Maria A. Mansilla, Jeffrey C. Murray, Ricardo D. Coletta, Graeme C.M. Black, Michael J. Dixon  The American Journal of Human Genetics  Volume 88, Issue 5, Pages (May 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions

2 Figure 1 A Mutation in FAM20A Underlies AI with Gingival Hyperplasia
(A) Clinical pictures of the teeth and gingivae of individuals II-2 and II-3. Affected persons exhibit thin, hypoplastic AI, resulting in a dentition with yellow discoloration and loss of structure together with enlargement of the gingivae. (B) Partial pedigree of the family. Shaded symbols represent individuals affected with AI and gingival hyperplasia, with the exception of individual II-7, who is affected with AI, gingival hyperplasia, and mental retardation. DNA samples were available from those individuals indicated with an asterisk. (C) Homozygosity mapping showing the homozygous region on chromosome 17 common to affected individuals. Black and yellow bars indicate homozygous and heterozygous SNPs, respectively. (D) Sequence chromatograms showing segregation of the c.406C>T mutation with the affected phenotype. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

3 Figure 2 In Situ Hybridization of Fam20a and Immunolocalization of Fam20a in the Mouse Mandibular Incisor (A) Fam20a mRNA expression is observed in the secretory ameloblasts, stratum intermedium, and stellate reticulum analog. (B) Fam20a mRNA is also expressed in the maturation stage ameloblasts, papillary layer, and the cells of the underlying connective tissue bed. (C and D) Fam20a is also expressed in the suprabasal layers of the gingivae (C) and in the odontoblasts (D). (E–H) The specificity of the in situ hybridization is demonstrated by use of a Fam20a sense riboprobe, which produces only background levels of alkaline phosphatase activity. (I–L) Consistent with the results of the in situ hybridization analysis, Fam20a immunoreactivity was observed in the secretory (I) and maturation (J) stage ameloblasts, the suprabasal layers of the gingival epithelium (K), and the odontoblasts (L). (M–P) The specificity of the immunolabeling is demonstrated by use of nonimmune serum, which produces only autofluorescence in erythrocytes (asterisks). For immunofluorescence, sections were counterstained with DAPI. The following abbreviations are used: a, ameloblasts; b, basal cell layer; c, cornified layer; ct, connective tissue bed; dp, dental pulp; o, odontoblasts; p, papillary layer; sb, suprabasal layer; si, stratum intermedium; sr, stellate reticulum analog. Scale bars represent 50 μm (C, G, I–P) and 25 μm (A, B, D, E, F, H). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

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