Latent TGFB-binding protein 3 (LTBP3) is known to increase bio-availability of TGFB. A homozygous mutation in this gene has previously been associated with oligodontia and short stature in a single family. We report on two sisters with homozygous truncating mutations in LTBP3. In addition to oligodontia and short stature, both sisters have mitral valve prolapse, suggesting a link between truncating LTBP3 mutations and mitral valve disease mediated through the TGFB pathway.
Pubmed ID: 25899461 RIS Download
Mesh terms: Adolescent | Anodontia | Base Sequence | Dwarfism | Exome | Female | Gene Expression | Genes, Recessive | High-Throughput Nucleotide Sequencing | Homozygote | Humans | Latent TGF-beta Binding Proteins | Mitral Valve Prolapse | Molecular Sequence Data | Mutation | Pedigree | Phenotype | Siblings | Transforming Growth Factor beta | Young Adult
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