1. Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3
- Author
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Benjamin A. Alman, Irina Vitcu, Abdul Noor, John B. Vincent, Christian Windpassinger, Mahwish Khalid, Muhammad Rafiq, Mahmood Nasir Malik, Marija Orlic, and Muhammad Ayub
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Male ,Heterozygote ,Candidate gene ,Nonsense mutation ,Oligodontia ,Biology ,Consanguinity ,03 medical and health sciences ,0302 clinical medicine ,Bone Density ,Report ,Genetics ,Humans ,Genetics(clinical) ,Pakistan ,RNA, Messenger ,Gene ,Genetics (clinical) ,Anodontia ,DNA Primers ,Oligonucleotide Array Sequence Analysis ,030304 developmental biology ,0303 health sciences ,Bone Development ,Base Sequence ,Chromosomes, Human, Pair 11 ,Binding protein ,Homozygote ,Heterozygote advantage ,030206 dentistry ,Disease gene identification ,Molecular biology ,Body Height ,Pedigree ,Latent TGF-beta binding protein ,Phenotype ,Latent TGF-beta Binding Proteins ,Codon, Nonsense ,Female - Abstract
We have identified a consanguineous Pakistani family where oligodontia is inherited along with short stature in an autosomal-recessive fashion. Increased bone density was present in the spine and at the base of the skull. Using high-density single-nucleotide polymorphism microarrays for homozygosity mapping, we identified a 28 Mb homozygous stretch shared between affected individuals on chromosome 11q13. Screening selected candidate genes within this region, we identified a homozygous nonsense mutation, Y774X, within LTBP3, the gene for the latent TGF-beta binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.
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