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

doi:10.1038/ng1197-285

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

Pediatrics

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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 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 language	English (US)
Pages (from-to)	285-291
Number of pages	7
Journal	Nature Genetics
Volume	17
Issue number	3
DOIs	https://doi.org/10.1038/ng1197-285
State	Published - 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

Quaderi, NA, Schweiger, S, Gaudenz, K, Franco, B, Rugarli, EI, Berger, W, Feldman, GJ, Volta, M, Andolfi, G, Gilgenkrantz, S, Marion, RW, Hennekam, RCM, Opitz, JM, Muenke, M, Ropers, HH & 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, vol. 17, no. 3, pp. 285-291. https://doi.org/10.1038/ng1197-285

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

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.",

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

year = "1997",

doi = "10.1038/ng1197-285",

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T1 - Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

AU - Quaderi, Nandita A.

AU - Schweiger, Susann

AU - Gaudenz, Karin

AU - Franco, Brunella

AU - Rugarli, Elena I.

AU - Berger, Wolfgang

AU - Feldman, George J.

AU - Volta, Manuela

AU - Andolfi, Grazia

AU - Gilgenkrantz, S.

AU - Marion, Robert W.

AU - Hennekam, Raoul C.M.

AU - Opitz, John M.

AU - Muenke, Maximilian

AU - Ropers, H. Hilger

AU - Ballabio, Andrea

PY - 1997

Y1 - 1997

N2 - 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.

AB - 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.

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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

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