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Case Reports
. 2013 Sep 25;527(2):673-4.
doi: 10.1016/j.gene.2013.06.039. Epub 2013 Jun 28.

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

N Diop-Bove  1 , M Jain, F Scaglia, I D Goldman
Affiliations
Case Reports

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

N Diop-Bove et al. Gene. .

Abstract

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.

Keywords: CSF; Folate deficiency; Folates; HCP1, heme carrier protein; HFM; HFM, hereditary folate malabsorption; Intestinal folate transport; PCFT; PCFT, proton-coupled folate transporter; cerebrospinal fluid; hereditary folate malabsorption; proton-coupled folate transporter.

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