Opitz (or G/BBB) syndrome is a @entity74 characterized by @entity5766 , @entity2650 , and additional midline defects. This syndrome is heterogeneous with an X-linked ( @entity3012 ) and an autosomal dominant (ADOS) form. The gene implicated in the @entity3012 form, @entity32841 , encodes a protein containing a RING-Bbox-Coiled-coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of @entity3012 , we have undertaken mutation analysis of the @entity32841 gene in @entity1 with @entity3012 ( @entity3012 ). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or @entity3012 cases. The mutations are scattered throughout the gene, although more are represented in the 3' region. By reviewing all the @entity32841 -mutated @entity3012 @entity1 so far described, we confirmed that @entity5766 and @entity2650 are the most frequent manifestations, being present in almost every @entity3012 individual. However, it is clear that laryngo-tracheo-esophageal (LTE) defects are also common anomalies, being manifested by all @entity32841 -mutated male @entity1 . Congenital heart and @entity854 are less frequent than reported in literature. In addition, we can include @entity4218 in the @entity3012 clinical synopsis as we found a @entity32841 -mutated @entity1 showing syndactyly. The low frequency of mutations in @entity32841 and the high variability of the phenotype suggest the involvement of other genes in the @entity3012 phenotype.

X-linked Opitz syndrome: novel mutations in the XXXX gene and redefinition of the clinical spectrum.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity5766 :: ('MESH:D006972', 'Disease') :: ['hypertelorism'] @entity2650 :: ('MESH:D007021', 'Disease') :: ['hypospadias'] @entity3012 :: ('MESH:C567932', 'Disease') :: ['familial X-linked OS', 'Opitz syndrome', 'XLOS', 'OS'] @entity4218 :: ('MESH:D017880', 'Disease') :: ['limb defects'] @entity854 :: ('MESH:D018376', 'Disease') :: ['anal abnormalities'] @entity74 :: ('MESH:D030342', 'Disease') :: ['pleiotropic genetic disorder'] @entity32841 :: ('4281', 'Gene') :: ['MID1']
@entity32841 :: (4281,Gene) :: ['MID1']
