Noor, A. and Windpassinger, C. and Vitcu, I. and Orlic, I. and Rafiq, M. A. and Khalid, M. and Malik, M. N. and Ayub, M. and Alman, B. and Vincent, J. B. (2009) 'Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-β binding protein 3.', American journal of human genetics., 84 (4). pp. 519-523.
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-β binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.
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|Publisher Web site:||http://dx.doi.org/10.1016/j.ajhg.2009.03.007|
|Record Created:||05 Jul 2011 11:20|
|Last Modified:||05 Jul 2011 14:54|
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