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Investigation of the role of the MID1 and MID2 genes in the Opitz syndrome

To determine whether or not the MIDI and MID2 genes contribute to the OS phenotype, a mutation screen was undertaken. Fifteen Australasian and one British patient diagnosed as having Opitz Syndrome were screened for mutations in the MIDI and MID2 genes. In total, 8 unique MIDL mutations (E115X, Aexon2, F/S l0sldelC, R368X, F/S 1330insA, Q468X, R495X 8L L626P) were identified. The majority of these mutations resulted in the truncation of the MIDI protein, midin (6 of the 8 mutations), disrupting the C-terminal domain (CTD). El15X was the most N-terminal mutation identified, resulting in a midin protein with only the RING finger domain. Two OS patients had nucleotide changes producing a frameshift, one was a deletion of a C nucleotide (1051delC) while the other was an insertion of a single A nucleotide (1330insA). One OS patient had a small in-frame deletion encompassing exon 2 (Lexon2) and another unique mutation resulted in an amino acid change from a leucine to a proline (L626P), representing the most C-terminal mutation identified so far. ln the MID2 gene, there was a missense mutation caused by a change 1073C>4. This mutation was present in OSP#7, 9 and 13 probands, which suggested that the MID2 gene may also have a role in the OS phenotype. The OS phenotype varies between individuals but there was no correlation between the OS phenotype and genotype in the mutations examined. The effect used wild-type