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

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

Author information

1
Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
2
Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada.
3
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
4
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
5
Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.

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

PMID:
25899461
DOI:
10.1002/ajmg.a.37049
[Indexed for MEDLINE]

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