Table 2.

SLC6A3 mutations identified in patients with dopamine transporter deficiency syndrome

	Ethnic origin	Parental consanguinity	Mutation status	Mutations in DNA	Exon	Effect on protein product
Patient 1	Pakistani	Yes	Homozygous	1103T→A	8	Leu368Gln
Patient 2	Pakistani	Yes	Homozygous	1103T→A	8	Leu368Gln
Patient 3	Mixed European descent	Yes	Homozygous	1184C→T	9	Pro395Leu
Patient 4	Mixed European descent	No	Homozygous	1156+5delG	Intron 8 splice site	Unknown
Patient 5*	Mixed European descent	No	Compound heterozygous	472G→T	4	Val158Phe
				1661C→T	13	Pro554Leu
Patient 6	Turkish	Yes	Homozygous	1031+1G→A	Intron 7 splice site	Unknown
Patient 7*	Mixed European descent	Yes	Homozygous	399delG	3	Ile134SerfsX5
Patient 8	Mixed European descent	No	Homozygous	1499_1767del	12, 13	Gly500GlufsX13
Patient 9	Mixed European descent	No	Compound heterozygous (three variants)	979G→A	7	Gly327Arg
				1315C→T	10	Gln439X
				1586C→T	12	Pro529Leu
Patient 10	Mixed European descent	Yes	Homozygous	671T→C	5	Leu224Pro
Patient 11	Mixed European descent	Yes	Homozygous	1561C→T	12	Arg521Trp

^*DNA not available for proband who had died some years before the study; both parents were heterozygous for the described mutations.