Copyright © 1998 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 63, Issue 3, 703-710, 1 September 1998
doi:10.1086/302010
Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain
Karin Gaudenz1, Erich Roessler1, 3, Nandita Quaderi4, Brunella Franco4, George Feldman1, David L. Gasser2, Bärbel Wittwer6, Eugenio Montini4, John M. Opitz7, Andrea Ballabio4, 5 and Maximilian Muenke1, 2, 3, 
, 
1 Department of Pediatrics, Philadelphia
2 Department of Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia
3 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda
4 Telethon Institute of Genetics and Medicine, Milan
5 Università Vita Salute, Milan
6 Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany
7 Department of Pediatrics, Human Genetics, and Obstetrics and Gynecology, University of Utah, Salt Lake City
Address for correspondence and reprints: Dr. Maximilian Muenke, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10, 10C101, Bethesda, MD 20892-1852Abstract
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.
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