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Article

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

20 Aug 2020

Abstract excerpt

Background Cerebral folate deficiency (CFD) syndrome is characterised by a low concentration of 5-methyltetrahydrofolate in cerebrospinal fluid, while folate levels in plasma and red blood cells are in the low normal range. Mutations in several folate pathway genes, including FOLR1 (folate receptor alpha, FRα), DHFR (dihydrofolate reductase) and PCFT (proton coupled folate transporter) have been previously...

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PMID: 32820034
DOI: 10.1136/jmedgenet-2020-106987

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