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

Journal Article

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. © 2009 The American Society of Human Genetics.

Full Text

Duke Authors

Cited Authors

  • Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Rafiq, MA; Khalid, M; Malik, MN; Ayub, M; Alman, B; Vincent, JB

Published Date

  • 2009

Published In

Volume / Issue

  • 84 / 4

Start / End Page

  • 519 - 523

PubMed ID

  • 19344874

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2009.03.007