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Summary
PARKINSONISM-DYSTONIA, INFANTILE, 1 PKDYS1
DOPAMINE TRANSPORTER DEFICIENCY SYNDROME DTDS
613135
OMIM = Online Medalian Inheritance of Men
238455
5p15.33
rare
autosomal recessive
mutation in the SLC6A3 gene
- early onset (infancy)
- later onset (childhood - adulthood)
symptoms
chorea or athetosis
constipation
developmental delay
drooling
dyskinesia
dystonia
eye movements, abnormal
feeding difficulties, poor feeding
gastroesophageal reflux
irritability
oculogyric crisis
onset, adolescent
onset, childhood
onset, infancy
Parkinsonism
pyramidal signs
tremor or twitching
laboratory finding
Homovanillic acid nmol/lcerebrospinal fluid
Literature
Webb BD,et al.Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing lossHum Mutat366587-5922015
Sofou K,et al.Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.Mol Genet Genomic Med3159-682015
Mizuguchi T,et al.PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderJ Hum Genet625525-5292017
Mart+¡nez-Zamora A,et al.Defective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate CarrierPLoS One1012e0144272015
Vanlander AV,et al.Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Hum Mutat362222-2312015
Simon M,et al.Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromePLoS Genet113e10050972015
Meseguer S,et al.microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseasesSci Rep7162092017