title: A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
abstract: We report a recessive mutation in the tyrosine hydroxylase gene (TH) promoter (c.1-71C>T), present at homozygosity in a patient with dopa-responsive encephalopathy. The change lies in a cAMP response element (CRE) and alters a binding site for the CREM transcription factor. Previous studies support that the CRE in the TH gene is essential for its transcription, suggesting that mutations within this consensus motif may cause an impairment of catecholamine biosynthesis and lead to a pathogenic phenotype.
authors: Departament de Psiquiatria, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors: Marta
authors: M
authors: Ribasés
authors: Mercedes
authors: M
authors: Serrano
authors: Emilio
authors: E
authors: Fernández-Alvarez
authors: Sandra
authors: S
authors: Pahisa
authors: Aida
authors: A
authors: Ormazabal
authors: Angels
authors: A
authors: García-Cazorla
authors: Belén
authors: B
authors: Pérez-Dueñas
authors: Jaume
authors: J
authors: Campistol
authors: Rafael
authors: R
authors: Artuch
authors: Bru
authors: B
authors: Cormand
mesh_terms: D001925:Brain Damage, Chronic / Q000188:drug therapy*; D002648:Child; D002675:Child, Preschool; D000242:Cyclic AMP / Q000494:pharmacology; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D015259:Dopamine Agents / Q000627:therapeutic use*; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D006720:Homozygote; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D020218:Response Elements / Q000235:genetics*; D014158:Transcription, Genetic; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
chemical_list: D015259:Dopamine Agents; D004295:Dihydroxyphenylalanine; D000242:Cyclic AMP; D014446:Tyrosine 3-Monooxygenase