Among 27 genes in duplicated CNVs, three of them, DGCR6, MAPK3 and TULP4 (Table 3; Supplementary Tables 2, 5), have been previously associated with orofacial development or proposed as causative for OFC syndromes (Demczuk et al. 1996; Lindsay and Baldini 1997; Yamamoto et al. 2003; Singh et al. 2007; Nakamura et al. 2009; Das Chakraborty et al. 2012; Vieira et al. 2015), while the remaining 24 genes are novel candidates (Supplementary Table 5). Here, TULP4 is linked to otofaciocervical syndrome.