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Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsonism-dystonia, characterised by frequent oculogyric crises, dysautonomia and global neurodevelopmental impairment. CSF neurotransmitter analysis was unexpectedly normal. Triome whole-genome sequencing revealed a homozygous variant (c.110C&gt;A, (p.T37K)) in DRD1, encoding the most abundant dopamine receptor (D1) in the central nervous system, most highly expressed in the striatum. This variant was absent from gnomAD, with a CADD score of 27.5. Using an in vitro heterologous expression system, we determined that DRD1-T37K results in loss of protein function. Structure-function modelling studies predicted reduced substrate binding, which was confirmed in vitro. Exposure of mutant protein to the selective D1 agonist Chloro APB resulted in significantly reduced cyclic AMP levels. Numerous D1 agonists failed to rescue the cellular defect, reflected clinically in the patient, who had no benefit from dopaminergic therapy. Our study identifies DRD1 as a new disease-associated gene, suggesting a crucial role for the D1 receptor in motor control.<\/jats:p>","DOI":"10.3390\/cells12071046","type":"journal-article","created":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T04:45:35Z","timestamp":1680151535000},"page":"1046","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia"],"prefix":"10.3390","volume":"12","author":[{"given":"Kimberley M.","family":"Reid","sequence":"first","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Steel","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK"},{"name":"Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1861-417X","authenticated-orcid":false,"given":"Sanjana","family":"Nair","sequence":"additional","affiliation":[{"name":"Leibniz Institute of Virology (LIV), Centre for Structural Systems Biology (CSSB), 20251 Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay","family":"Bhate","sequence":"additional","affiliation":[{"name":"Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK"},{"name":"Department of Radiology, Great Ormond Street Hospital, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Biassoni","sequence":"additional","affiliation":[{"name":"Department of Neurology, Great Ormond Street Hospital, 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Burke","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD 20892, USA"},{"name":"Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biju","family":"Hameed","sequence":"additional","affiliation":[{"name":"Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine, Technical University of Munich, 85354 Munich, Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen, 85764 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niccolo E.","family":"Mencacci","sequence":"additional","affiliation":[{"name":"Feinberg School of Medicine, Northwestern University, Chicago IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Barwick","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, 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