Skip to main content
. 2014 Jan 9;9(1):e85313. doi: 10.1371/journal.pone.0085313

Figure 4. Results from DNA sequencing of the CHD7 gene.

Figure 4

Upper part showing single base mutations in intron 12 of the CHD7 gene reported in the CHD7 database (www.chd7.org) together with the pathogenic c.3202-1 G>C mutation identified in patient V15 (1). The c.3202-5T>C mutation (2) has been reported in four patients in the CHD7 database and was found in patient V7 in our study. We consider the mutation to be of unclear clinical significance since experimental evidence does not indicate that it affects splicing. Lower part showing the pathogenic mutation c.3202-1G>C (*) detected in patient V15 in forward (F) and reverse (R) sequences.