Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption

Berna Atabay, Meral Turker, Esra Arun Ozer, Kris Mahadeo, Ndeye Diop-Bove, I. David Goldman

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder characterized by systemic and central nervous system folate deficiency. Turkish siblings are reported with the clinical syndrome of HFM, homozygous for deletion of 2 bases (c.204-205 delCC) within the first exon of the proton-coupled folate transporter (PCFT) gene, causing a frameshift. Low blood and cerebrospinal fluid folate levels were detected at ages 3.5 and 1 month. Treatment with parenteral 5-formyltetrahydrofolate resulted in normal development now at ages 3 and 1 year. Extending current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum will provide opportunities to define possible genotype-phenotype correlations and clarify the basis for the phenotypic variability that is characteristic of this disorder.

Original languageEnglish (US)
Pages (from-to)614-619
Number of pages6
JournalPediatric Hematology and Oncology
Volume27
Issue number8
DOIs
StatePublished - Oct 18 2010

Keywords

  • Folate deficiency
  • HCP1
  • HFM
  • Hereditary folate malabsorption
  • Megaloblastic anemia
  • PCFT
  • SLC46A1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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