Article ID Journal Published Year Pages File Type
2000255 Molecular Genetics and Metabolism 2007 4 Pages PDF
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.

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