title: New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
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.
authors.affiliation: Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Dugan
authors.affiliation: Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
authors.forename: Renee T
authors.initials: RT
authors.lastname: Temme
authors.affiliation: Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Olson
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada.
authors.forename: Anna
authors.initials: A
authors.lastname: Mikhailov
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada.
authors.forename: Rosalind
authors.initials: R
authors.lastname: Law
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada.
authors.forename: Huda
authors.initials: H
authors.lastname: Mahmood
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: Abdul
authors.initials: A
authors.lastname: Noor
authors.affiliation: Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada.|Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.|Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
authors.forename: John B
authors.initials: JB
authors.lastname: Vincent
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D059472:Exome; D005260:Female; D015870:Gene Expression; D005808:Genes, Recessive; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D053779:Latent TGF-beta Binding Proteins / Q000235:genetics*; D008945:Mitral Valve Prolapse / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D035781:Siblings; D016212:Transforming Growth Factor beta / Q000235:genetics; D055815:Young Adult
chemical_list: C509038:LTBP3 protein, human; D053779:Latent TGF-beta Binding Proteins; D016212:Transforming Growth Factor beta
keywords: anodontia; autosomal recessive; cardiac; hypertrichosis; mitral valve prolapse; oligodontia; selective tooth agenesis; short stature