Get access

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

Authors

  • Esra Dikoglu,

    1. Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Search for more papers by this author
  • Pelin Ozlem Simsek-Kiper,

    1. Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Search for more papers by this author
  • Gulen Eda Utine,

    1. Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Search for more papers by this author
  • Belinda Campos-Xavier,

    1. Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Search for more papers by this author
  • Koray Boduroglu,

    1. Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Search for more papers by this author
  • Luisa Bonafé,

    1. Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Search for more papers by this author
  • Andrea Superti-Furga,

    1. Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Search for more papers by this author
  • Sheila Unger

    Corresponding author
    1. Service of Medical Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    • Correspondence to:

      Sheila Unger, MD, Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

      E-mail: sheila.unger@unil.ch

    Search for more papers by this author

  • Esra Dikoglu and Pelin Ozlem Simsek-Kiper these authors contributed equally to this work.
  • Conflict of interest: none.

Abstract

Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15. © 2013 Wiley Periodicals, Inc.

Ancillary