After the validation of our probes, we screened a total of 208 HSCR patients and found a deletion in GFRA1 gene (c.(?-555)_431+?del; Figure 1) that affects exons 1a, 2a, 3 and 4 in isoform NM_005264 and exons 2b, 3 and 4 in isoform NM_145793. Here, GFRA1 is linked to Hirschsprung disease.