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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1997-11

AUTHORS

N A Quaderi, S Schweiger, K Gaudenz, B Franco, E I Rugarli, W Berger, G J Feldman, M Volta, G Andolfi, S Gilgenkrantz, R W Marion, R C Hennekam, J M Opitz, M Muenke, H H Ropers, A Ballabio

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. More... »

PAGES

285-291

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1197-285

DOI

http://dx.doi.org/10.1038/ng1197-285

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042310620

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9354791


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