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

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 oligodo...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-06, Vol.167A (6), p.1396-1399
Main Authors: Dugan, Sarah L., Temme, Renee T., Olson, Rebecca A., Mikhailov, Anna, Law, Rosalind, Mahmood, Huda, Noor, Abdul, Vincent, John B.
Format: Article
Language:English
Subjects:
Adolescent
anodontia
Anodontia - diagnosis
Anodontia - genetics
Anodontia - pathology
autosomal recessive
Base Sequence
cardiac
Dwarfism - diagnosis
Dwarfism - genetics
Dwarfism - pathology
Exome
Female
Gene Expression
Genes, Recessive
High-Throughput Nucleotide Sequencing
Homozygote
Humans
hypertrichosis
Latent TGF-beta Binding Proteins - genetics
mitral valve prolapse
Mitral Valve Prolapse - diagnosis
Mitral Valve Prolapse - genetics
Mitral Valve Prolapse - pathology
Molecular Sequence Data
Mutation
oligodontia
Pedigree
Phenotype
selective tooth agenesis
short stature
Siblings
Transforming Growth Factor beta - genetics
Young Adult
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37049