New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse

Am J Med Genet A. 2015 Jun;167(6):1396-9. doi: 10.1002/ajmg.a.37049. Epub 2015 Apr 21.

Abstract

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.

Keywords: anodontia; autosomal recessive; cardiac; hypertrichosis; mitral valve prolapse; oligodontia; selective tooth agenesis; short stature.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Anodontia / diagnosis
  • Anodontia / genetics*
  • Anodontia / pathology
  • Base Sequence
  • Dwarfism / diagnosis
  • Dwarfism / genetics*
  • Dwarfism / pathology
  • Exome*
  • Female
  • Gene Expression
  • Genes, Recessive
  • High-Throughput Nucleotide Sequencing
  • Homozygote
  • Humans
  • Latent TGF-beta Binding Proteins / genetics*
  • Mitral Valve Prolapse / diagnosis
  • Mitral Valve Prolapse / genetics*
  • Mitral Valve Prolapse / pathology
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Phenotype
  • Siblings
  • Transforming Growth Factor beta / genetics
  • Young Adult

Substances

  • LTBP3 protein, human
  • Latent TGF-beta Binding Proteins
  • Transforming Growth Factor beta