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Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

Publication ,  Journal Article
Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Rafiq, MA; Khalid, M; Malik, MN; Ayub, M; Alman, B; Vincent, JB
Published in: Am J Hum Genet
April 2009

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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Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

April 2009

Volume

84

Issue

4

Start / End Page

519 / 523

Location

United States

Related Subject Headings

  • RNA, Messenger
  • Phenotype
  • Pedigree
  • Pakistan
  • Oligonucleotide Array Sequence Analysis
  • Male
  • Latent TGF-beta Binding Proteins
  • Humans
  • Homozygote
  • Heterozygote
 

Citation

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Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., … Vincent, J. B. (2009). Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet, 84(4), 519–523. https://doi.org/10.1016/j.ajhg.2009.03.007
Noor, Abdul, Christian Windpassinger, Irina Vitcu, Marija Orlic, Muhammad Arshad Rafiq, Mahwish Khalid, Mahmood Nasir Malik, Muhammad Ayub, Benjamin Alman, and John B. Vincent. “Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.Am J Hum Genet 84, no. 4 (April 2009): 519–23. https://doi.org/10.1016/j.ajhg.2009.03.007.
Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, et al. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet. 2009 Apr;84(4):519–23.
Noor, Abdul, et al. “Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.Am J Hum Genet, vol. 84, no. 4, Apr. 2009, pp. 519–23. Pubmed, doi:10.1016/j.ajhg.2009.03.007.
Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet. 2009 Apr;84(4):519–523.
Journal cover image

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

April 2009

Volume

84

Issue

4

Start / End Page

519 / 523

Location

United States

Related Subject Headings

  • RNA, Messenger
  • Phenotype
  • Pedigree
  • Pakistan
  • Oligonucleotide Array Sequence Analysis
  • Male
  • Latent TGF-beta Binding Proteins
  • Humans
  • Homozygote
  • Heterozygote