Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain

Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella Franco, George Feldman, David L. Gasser, Bärbel Wittwer, Eugenio Montini, John M. Opitz, Andrea Ballabio, Maximilian Muenke

Research output: Contribution to journalArticle

Abstract

The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene structure of the MID1 gene and have analyzed all nine exons for mutations in a set of 40 unrelated Opitz G/BBB patients. We now report six additional mutations all clustered in the carboxy-terminal domain of the MID1 protein. These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis.

Original languageEnglish
Pages (from-to)703-710
Number of pages8
JournalAmerican Journal of Human Genetics
Volume63
Issue number3
DOIs
Publication statusPublished - Sep 1998

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ASJC Scopus subject areas

  • Genetics

Cite this

Gaudenz, K., Roessler, E., Quaderi, N., Franco, B., Feldman, G., Gasser, D. L., Wittwer, B., Montini, E., Opitz, J. M., Ballabio, A., & Muenke, M. (1998). Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain. American Journal of Human Genetics, 63(3), 703-710. https://doi.org/10.1086/302010