In our previous screening of 83 HSCR patients, targeted exome sequencing identified nine rare variants of RET (Jiang et al., 2017b): six were LOF mutations [c.254G > A (p.Trp85X), c.754G > T (p.E252X), c.789C > G (p.Y263X), c.2308C > T (p.R770X), c.2333delT (p.V778Afs*1), and c.2578C > T (p.Q860X)], one was a canonical splice acceptor site mutation (c.2802-2A > G), one was a previously reported pathogenic missense mutation [c.229C > T (p.R77C)], and one was likely pathogenic due to an in-frame insertion [c.200insTCC (p.R67insL)]. Here, RET is linked to Hirschsprung disease.