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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Nature Genetics volume 17, pages 285291 (1997) | Download Citation

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Abstract

Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22f MIDI (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MID1 encodes a member of the B-box family of proteins, which contain protein–protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MID1 with OS suggests an important role for this gene in midline development.

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Author information

Affiliations

  1. Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, 20132 Milan, Italy.

    • Nandita A. Quaderi
    • , Brunella Franco
    • , Elena I. Rugarli
    • , Manuela Volta
    • , Grazia Andolfi
    •  & Andrea Ballabio
  2. Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.

    • Susann Schweiger
    • , Wolfgang Berger
    •  & Hilger H. Ropers
  3. The Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Departments of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104–4399, USA.

    • Karin Gaudenz
    • , George J. Feldman
    •  & Maximilian Muenke
  4. Nancy, France.

    • S. Gilgenkrantz
  5. Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467–2401, USA.

    • Robert W. Marion
  6. Institute of Human Genetics, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

    • Raoul C.M. Hennekam
  7. Department of Pediatrics, Human Genetics and Obstetrics & Gynecology, University of Utah, Salt Lake City, Utah 84132, USA.

    • John M. Opitz
  8. Department of Human Genetics, University of Nijmegen, 6500 HB Nijmegen, The Netherlands.

    • Hilger H. Ropers

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Correspondence to Andrea Ballabio.

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https://doi.org/10.1038/ng1197-285

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