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

Nandita A. Quaderi, Susann Schweiger, Karin Gaudenz, Brunella Franco, Elena I. Rugarli, Wolfgang Berger, George J. Feldman, Manuela Volta, Grazia Andolfi, S. Gilgenkrantz, Robert W. Marion, Raoul C.M. Hennekam, John M. Opitz, Maximilian Muenke, H. Hilger Ropers, Andrea Ballabio

Research output: Contribution to journalArticle

283 Scopus citations

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 Xp22, MID1 (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.

Original languageEnglish (US)
Pages (from-to)285-291
Number of pages7
JournalNature Genetics
Volume17
Issue number3
DOIs
StatePublished - Jan 1 1997

ASJC Scopus subject areas

  • Genetics

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    Quaderi, N. A., Schweiger, S., Gaudenz, K., Franco, B., Rugarli, E. I., Berger, W., Feldman, G. J., Volta, M., Andolfi, G., Gilgenkrantz, S., Marion, R. W., Hennekam, R. C. M., Opitz, J. M., Muenke, M., Ropers, H. H., & Ballabio, A. (1997). Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genetics, 17(3), 285-291. https://doi.org/10.1038/ng1197-285