Table 2.
Chromosomal rearrangements encompassing DLX5 and DLX6 to date
Mutation | Rearrangements | Reported phenotype | Reference |
---|---|---|---|
Gross deletion (DLX5 and DLX6) | ~8.478-Mb deletion including entire DLX5, DLX6, and >50 others genes | SHFM | Vera-Carbonell et al., 2012 |
Gross deletion (DLX5 and DLX6) | 0.9–1.8-Mb deletion including entire DLX5, DLX6, and DSS1 genes | SHFM with Mondini dysplasia | Wieland et al., 2004 |
Gross insertion (DLX5 and DLX6) | 719-kb duplication including entire DLX5 and DLX6 genes | SHFM | Velinov et al., 2012 |