Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Journal Article (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-beta binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.
- Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Rafiq, MA; Khalid, M; Malik, MN; Ayub, M; Alman, B; Vincent, JB
- April 2009
Volume / Issue
- 84 / 4
Start / End Page
- 519 - 523
Pubmed Central ID
Electronic International Standard Serial Number (EISSN)
Digital Object Identifier (DOI)
- United States