The coexistence of mutations in SEMA5A and ABCB1 and the expression of both genes together in MFD-1 is of particular relevance because mutations in SEMA5A and ABCB1 were the only mutations found to co-occur more often than would be expected by chance in a cohort of 112 cases (P = 0.0021) of OAC by Weaver et.al, but the reasons for this association remain unclear4. Here, SEMA5A is linked to Treacher-Collins syndrome.