Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija.

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Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija Orlic, Muhammad Arshad Rafiq, Mahwish Khalid, Mahmood Nasir Malik, Muhammad Ayub, Benjamin Alman, John B. Vincent The American Journal of Human Genetics Volume 84, Issue 4, Pages 519-523 (April 2009) DOI: 10.1016/j.ajhg.2009.03.007 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the Pakistani Oligodontia Family Affected family members are indicated by shaded symbols, and deceased members are indicated by symbols with a line through them. Microsatellite markers D11S935, D11S905, D11S1910, D11S4109, D11S4191, D11S987, and D11S937 were genotyped in all available family members. Haplotypes are shown, and the disease haplotype is indicated with a red box. The haplotype for the deceased father was reconstructed from genotype information from the mother and offspring. The American Journal of Human Genetics 2009 84, 519-523DOI: (10.1016/j.ajhg.2009.03.007) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 Radiological Findings and Details of LTBP3 Mutation (A) Chest and skull X-rays of an unaffected (carrier) individual (individual II:8, Figure 1; age 25 years) and an affected individual (individual II:6, Figure 1; age 30 years) show increased bone density in the spine and the bottom of the skull (indicated by red arrows) in the affected individual. (B) An electropherogram from affected individual II:6, with the position of the C-to-G mutation in LTBP3 indicated by a red box. Above this is indicated the effect on amino acid sequence, where the TAC codon for tyrosine is mutated to a TAG stop codon. (C) The position of the Y774X mutation is shown relative to the genomic organization of LTBP3 (above) and the domain organization of the LTBP3 protein. The American Journal of Human Genetics 2009 84, 519-523DOI: (10.1016/j.ajhg.2009.03.007) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 Summary of LTBP3 mRNA Expression Summary of LTBP3 expression as quantified by qPCR with mRNA extracted from lymphoblastoid cell lines of three affected individuals (II:2, II:3, II:6) and a control. Data indicate a significantly lower quantity of LTBP3 mRNA in all three patients than in the control, as a result of nonsense-mediated decay. Standard error bars are shown. The American Journal of Human Genetics 2009 84, 519-523DOI: (10.1016/j.ajhg.2009.03.007) Copyright © 2009 The American Society of Human Genetics Terms and Conditions