Literature DB >> 25899461

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

Sarah L Dugan1, Renee T Temme1, Rebecca A Olson1, Anna Mikhailov2, Rosalind Law2, Huda Mahmood2, Abdul Noor3, John B Vincent2,4,5.   

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.

Entities:  

Keywords:  anodontia; autosomal recessive; cardiac; hypertrichosis; mitral valve prolapse; oligodontia; selective tooth agenesis; short stature

Mesh：

Substances：

Year:  2015        PMID： 25899461     DOI： 10.1002/ajmg.a.37049

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  7 in total

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Authors:  Kimberly Sauls; Katelynn Toomer; Katherine Williams; Amanda J Johnson; Roger R Markwald; Zoltan Hajdu; Russell A Norris
Journal:  J Cardiovasc Dev Dis       Date:  2015-07-24

2.  Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice.

Authors:  Supawich Morkmued; Joseph Hemmerle; Eric Mathieu; Virginie Laugel-Haushalter; Branka Dabovic; Daniel B Rifkin; Pascal Dollé; Karen Niederreither; Agnès Bloch-Zupan
Journal:  Eur J Oral Sci       Date:  2017-02       Impact factor: 2.612

3.  Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.

Authors:  Guoyan Zhu; Mingyao Luo; Qianlong Chen; Yinhui Zhang; Kun Zhao; Yujing Zhang; Chang Shu; Hang Yang; Zhou Zhou
Journal:  Orphanet J Rare Dis       Date:  2021-12-14       Impact factor: 4.123

4.  Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.

Authors:  Sarah Stanley; Zerina Balic; Dirk Hubmacher
Journal:  Ann N Y Acad Sci       Date:  2020-09-02       Impact factor: 5.691

Review 5.  The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Authors:  Meredith A Williams; Ariadne Letra
Journal:  Genes (Basel)       Date:  2018-05-16       Impact factor: 4.096

6.  LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia.

Authors:  Gabriela Rudd Garces; Anna Knebel; Kirsten Hülskötter; Vidhya Jagannathan; Theresa Störk; Marion Hewicker-Trautwein; Tosso Leeb; Holger A Volk
Journal:  Genes (Basel)       Date:  2021-11-29       Impact factor: 4.096

7.  A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Authors:  Elisabetta Flex; Valentina Imperatore; Giovanna Carpentieri; Alessandro Bruselles; Andrea Ciolfi; Simone Pizzi; Maria Giovanna Tedesco; Daniela Rogaia; Amedea Mencarelli; Giuseppe Di Cara; Alberto Verrotti; Stefania Troiani; Giuseppe Merla; Marco Tartaglia; Paolo Prontera
Journal:  Genes (Basel)       Date:  2021-09-12       Impact factor: 4.096
  7 in total

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