New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. (21st April 2015)

• Record Type: Journal Article
• Authors: Dugan, Sarah L.; Temme, Renee T.; Olson, Rebecca A.; Mikhailov, Anna; Law, Rosalind; Mahmood, Huda; Noor, Abdul; Vincent, John B.
• Is Part Of: American journal of medical genetics. Volume 167:Number 6(2015:Jun.)
• Page Start: 1396
• Page End: 1399
• Publication Date: 2015-04-21
• Subjects: oligodontia -- selective tooth agenesis -- anodontia -- short stature -- cardiac -- mitral valve prolapse -- hypertrichosis -- autosomal recessive; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37049
• Languages: English
• ISSNs: 1552-4825

Abstract

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. © 2015 Wiley Periodicals, Inc.