In this sense, no point coding mutations were detected in this patient, or in the previously described patient harbouring the same deletion, in other HSCR-related genes tested such as RET, GDNF, NRTN, PSPN, ARTN, EDNRB, EDN3, NTF3, NTRK3, SOX10 or PHOX2B. The present results indicate that CNVs are not a common molecular cause of HSCR, although they should be taken into account for further studies. Here, PSPN is linked to Hirschsprung disease.