Dugan Sarah L, Temme Renee T, Olson Rebecca A, Mikhailov Anna, Law Rosalind, Mahmood Huda, Noor Abdul, Vincent John B
Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada.
Am J Med Genet A. 2015 Jun;167(6):1396-9. doi: 10.1002/ajmg.a.37049. Epub 2015 Apr 21.
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.
已知潜伏性转化生长因子β结合蛋白3（LTBP3）可提高转化生长因子β的生物利用度。此前在一个家族中发现该基因的纯合突变与少牙症和身材矮小有关。我们报告了两名携带LTBP3纯合截短突变的姐妹。除了少牙症和身材矮小外，这两名姐妹均患有二尖瓣脱垂，提示LTBP3截短突变与通过转化生长因子β途径介导的二尖瓣疾病之间存在联系。
