Six additional genes (THBS1, TSHZ1, TTC28, WHSC1, WHSC2 and LETM1) encompassed by deleted CNVs have been proposed as the potentially causative genes in critical genomic regions for OFC syndromes (Table 3; Supplementary Tables 2, 5) (Wright et al. 1997, 1999; Stec et al. 1998; Zollino et al. 2000, 2003; Schlickum et al. 2004; Nishiwaki et al. 2006; Coré et al. 2007; Maas et al. 2008; Dostal et al. 2009; Heinonen and Maki 2009; Davidson et al. 2012; Shimizu et al. 2014; Liu et al. 2015). This evidence concerns the gene LETM1 and otofaciocervical syndrome.