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Am J Hum Genet. 2009 Apr;84(4):519-23. doi: 10.1016/j.ajhg.2009.03.007. Epub 2009 Apr 2.

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

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1
Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.

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

PMID:
19344874
PMCID:
PMC2667979
DOI:
10.1016/j.ajhg.2009.03.007
[Indexed for MEDLINE]
Free PMC Article
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