Table 1

Clinical and biochemical characteristics and genetic variation of the DBH gene in four families with dopamine β hydroxylase deficiency syndrome*

Participant	Orthostasis	Plasma levels†				Mutation associated with dopamine β hydroxylase deficiency syndrome	−1021 genotype
Participant	Orthostasis	Norepinephrine (pg/ml)	Epinephrine (pg/ml)	Dopamine (pg/ml)	Dopamine β hydroxylase (U/l)		−1021 genotype
ND, not determined; C, C allele; T, T allele.
* Participants with orthostatic hypotension boxed.
† Normal values: <600 pg/ml for norepinephrine, <120 pg/ml for epinephrine, and <60 pg/ml for dopamine.
A1.1	No	720	121	60	16.9	Heterozygous IVS1+2T>C	TC
A.1.2	No	439	32	45	0	Heterozygous IVS1+2T>C	TT
A2.1	Yes	0	0	480	0	Homozygous IVS1+2T>C	TT
A2.2	No	602	428	68	19.6	ND	ND
A2.3	No	184	112	27	0	Heterozygous IVS1+2T>C	TT
B1.1	No	117	19	31	0.8	Heterozygous c.575delA	TC
B1.2	No	244	91	23	21.3	Heterozygous IVS1+2T>C	TC
B2.1	Yes	0	0	250	0	IVS1+2T>C/c.575delA	TC
B2.2	No	195	78	12	14.2	Heterozygous c.575delA	CC
C1.1	No	231	18	5	9.2	Heterozygous 764G>T	CC
C1.2	No	187	45	4	19	Heterozygous 764G>T	CC
C2.1	No	231	11	44	9.8	Heterozygous 764G>T	CC
C2.2	Yes	0	7	77	0	Homozygous 764G>T	CC
C2.3	No	131	19	3	9.8	Heterozygous 764G>T	CC
D1.1	No	379	119	20	5.8	Heterozygous 1625A>G	CC
D1.2	No	430	59	14	0	Heterozygous IVS1+2T>C	TT
D2.1	Yes	20	72	205	0	IVS1+2T>C/1625A>G	TC
D2.2	Yes	0	10	51	0	IVS1+2T>C/1625A>G	TC
D2.3	No	235	23	10	5	Heterozygous IVS1+2T>C	TC
D2.4	No	293	35	10	7.1	Heterozygous IVS1+2T>C	TC
D2.5	Yes	5	0	114	0	IVS1+2T>C/1625A>G	TC