A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

N. Diop-Bove, M. Jain, F. Scaglia, I. D. Goldman

Research output: Contribution to journalArticle

11 Scopus citations


Hereditary folate malabsorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter gene (pcft/. SLC46A1) resulting in impaired folate transport across the intestine and into the central nervous system. We report a novel, homozygous, deletion mutation in a child of Nicaraguan descent in exon 2 (c.558-588 del, ss778190447) at amino acid position I188 resulting in a frameshift with a premature stop.

Original languageEnglish (US)
Pages (from-to)673-674
Number of pages2
Issue number2
Publication statusPublished - Sep 25 2013



  • Folate deficiency
  • Folates
  • HCP1, heme carrier protein
  • HFM, hereditary folate malabsorption
  • Intestinal folate transport
  • PCFT, proton-coupled folate transporter

ASJC Scopus subject areas

  • Genetics

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