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GENATLAS PHENOTYPE
last update : 02-01-2012
Symbol OGS1
Location Xp22.2
Name Opitz-G/BBB syndrome 1
Other name(s)
  • Opitz syndrome
  • hypospadias-dysphagia syndrome
  • telecanthus with associated abnormalities
  • Corresponding gene MID1
    Other symbol(s) OS, OSX, BBDG1, MID1
    Main clinical features
  • hypertelorism or telecanthus, neuromuscular defect of the oesophagus and swallowing mechanism, hoarse cry
  • midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias
  • agenesis of the corpus callosum
  • sometimes mental retardation
  • Genetic determination sex linked
    Function/system disorder multisystem/generalized
    Type malformation
    Gene product
    Name midin (MID1) displaying an impaired association with the cytoskeletal structures, loss of function mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function scattered along the entire length of the gene and are represented by missense and nonsense mutations, insertions and deletions causing frame shift mutations, and deletion of either single exons or the entire gene
    Remark(s)
  • the low percentage of MID1-mutated OS patients, 47% of the familial and 13% of the sporadic cases, suggests a wider genetic heterogeneity underlying the OS phenotype
  • dysfunction of function in directing translational control to the cytoskeleton would lead to malfunction of microtubule-associated protein translation and to the development of OGS1
  • Opitz syndrome-derived mutations in MID1 have been identified throughout the protein and show several functional consequences such as compromised association with microtubules and/or transport along microtubules (PMID: 21555591))