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

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.

SUBMITTER: Noor A

PROVIDER: S-EPMC2667979 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature

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

Noor Abdul A Windpassinger Christian C Vitcu Irina I Orlic Marija M Rafiq Muhammad Arshad MA Khalid Mahwish M Malik Mahmood Nasir MN Ayub Muhammad M Alman Benjamin B Vincent John B JB

American journal of human genetics 20090402 4

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 m ...[more]

PMID: 19344874

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