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Oligodontia is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

Noor, A.; Windpassinger, C.; Vitcu, I.; Orlic, I.; Rafiq, M.A.; Khalid, M.; Malik, M.N.; Ayub, M.; Alman, B.; Vincent, J.B.

Authors

A. Noor

C. Windpassinger

I. Vitcu

I. Orlic

M.A. Rafiq

M. Khalid

M.N. Malik

M. Ayub

B. Alman

J.B. Vincent



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-β binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.

Citation

Noor, A., Windpassinger, C., Vitcu, I., Orlic, I., Rafiq, M., Khalid, M., …Vincent, J. (2009). Oligodontia is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3. American Journal of Human Genetics, 84(4), 519-523. https://doi.org/10.1016/j.ajhg.2009.03.007

Journal Article Type Article
Publication Date Apr 1, 2009
Deposit Date Jun 22, 2011
Journal American Journal of Human Genetics
Print ISSN 0002-9297
Publisher Cell Press
Peer Reviewed Peer Reviewed
Volume 84
Issue 4
Pages 519-523
DOI https://doi.org/10.1016/j.ajhg.2009.03.007

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