FIGURE 1.

Mutations of the DBH gene in NE deficiency. A, a T→C change in the splice donor site of intron 1 and a C→A transition in exon 6 at cDNA position 1043 bp of the DBH gene were identified in NE deficiency. B, the patient is a compound heterozygote for IVS1+2T→C and A348E inherited from the mother and father, respectively. A filled symbol denotes an affected individual.