Description:
DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; SLC6A3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Amish
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
SLC6A3 |
| Chromosomal Location |
5p15.33 |
| Allelic Variant 1 |
; DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS |
| Identified Mutation |
c.1408T>A; The dopamine transporter (DAT), which is encoded by the SLC6A3 gene, mediates the active reuptake of dopamine from the synapse and is a principal regulator of dopaminergic neurotransmission. The SLC6A3 gene has been implicated in human disorders such as parkinsonism, Tourette syndrome, and substance abuse (Vandenbergh et al., 1992). |
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| Gene |
SLC6A3 |
| Chromosomal Location |
5p15.33 |
| Allelic Variant 1 |
; DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS |
| Identified Mutation |
c.1409A>G; The dopamine transporter (DAT), which is encoded by the SLC6A3 gene, mediates the active reuptake of dopamine from the synapse and is a principal regulator of dopaminergic neurotransmission. The SLC6A3 gene has been implicated in human disorders such as parkinsonism, Tourette syndrome, and substance abuse (Vandenbergh et al., 1992). |
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| Gene |
SLC6A3 |
| Chromosomal Location |
5p15.33 |
| Allelic Variant 2 |
; DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS |
| Identified Mutation |
c.1409A>G; The dopamine transporter (DAT), which is encoded by the SLC6A3 gene, mediates the active reuptake of dopamine from the synapse and is a principal regulator of dopaminergic neurotransmission. The SLC6A3 gene has been implicated in human disorders such as parkinsonism, Tourette syndrome, and substance abuse (Vandenbergh et al., 1992). |
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| Gene |
SLC6A3 |
| Chromosomal Location |
5p15.33 |
| Allelic Variant 2 |
; DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS |
| Identified Mutation |
c.1408T>A; The dopamine transporter (DAT), which is encoded by the SLC6A3 gene, mediates the active reuptake of dopamine from the synapse and is a principal regulator of dopaminergic neurotransmission. The SLC6A3 gene has been implicated in human disorders such as parkinsonism, Tourette syndrome, and substance abuse (Vandenbergh et al., 1992). |
| Remarks |
Clinically affected; onset of symptoms within the first few weeks after birth; diagnosed at 10 months of age with infantile Parkinsonism and dystonia; DAT1 deficiency; normal head size and growth; cranial nerves: symmetric smile but mild, mask-like facies; atrophy/wasting of temporalis muscles; slightly sunken eyes; no tongue atrophy or fasciculation; continual rapid dystonic contractions of both arms; more static asymmetric dystonic posturing of lower extremities (left flexor bias, right extensor bias); hands often held open, but fisted during opisthotonic episodes; central tone is poor (head lag when pulled to sit, vertical slip-through); tendon reflexes are not increased; left foot in dystonic plantar grasp; no Babinski reflex elicited; cautionary weight gain; severe dysphagia secondary to dystonia; genetic testing by Sanger sequencing; homozygous mutations in SLC6A3 gene; allele 1: 1408T>A and c.1409A>G; allele 2: 1408T>A and c.1409A>G; assistive devices: wheelchair, G-tube feeding. |
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