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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.
- Source :
-
Nature genetics [Nat Genet] 1997 Nov; Vol. 17 (3), pp. 285-91. - Publication Year :
- 1997
-
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.
- Subjects :
- Amino Acid Sequence
Animals
Child, Preschool
Chromosome Inversion
Cleft Lip genetics
Cloning, Molecular
Deglutition Disorders genetics
Female
Gene Expression Regulation, Developmental
Humans
Hypertelorism genetics
Hypospadias genetics
In Situ Hybridization
Male
Mice
Molecular Sequence Data
Tissue Distribution
Transcription Factors metabolism
Ubiquitin-Protein Ligases
Abnormalities, Multiple genetics
Microtubule Proteins
Mutation
Nuclear Proteins
Transcription Factors genetics
X Chromosome
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 17
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 9354791
- Full Text :
- https://doi.org/10.1038/ng1197-285