CHD7 and CHARGE syndrome: For example, whole-exome sequencing of all coding exons including at least 20-base pair (bp) intronic DNA to capture intron–exon boundaries, of seven patients with clinically typical CHARGE syndrome, for whom standard Sanger sequencing failed to identify a CHD7 mutation, identified two intronic (c.5051-15T>A and c.5405-17G>A) mutations in the CHD7 gene in two patients (N. Corsten-Janssen, unpublished).