We identified three more families with TBC1D24 mutations, one through additional exome sequencing and two by Sanger sequencing, totalling 11 affected individuals from nine families with confirmed mutations in the cohort of 26 families affected by DOORS syndrome (see table 1 for the TBC1D24 mutations identified and the appendix p 4 for analyses done on each family). The gene discussed is TBC1D24; the disease is DOORS syndrome.