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Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.

Publication ,  Journal Article
Shin, DS; Mahadeo, K; Min, SH; Diop-Bove, N; Clayton, P; Zhao, R; Goldman, ID
Published in: Mol Genet Metab
May 2011

Hereditary folate malabsorption (HFM) is an autosomal recessive disorder, recently shown to be due to loss-of-function mutations of the proton-coupled folate transporter (PCFT-SLC46A1), resulting in systemic and central nervous system folate deficiency. Data is emerging on the spectrum of PCFT mutations associated with this disorder. In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C>A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G>C) and E9Gfs (c.17-18insC). Functional assessment of A335D and G338R PCFT mutants transfected into folate transporter-deficient HeLa R1-11 cells indicated a complete loss of transport activity. There were neurological deficiencies in two of the families reported; in particular, late-onset seizures. The importance of early diagnosis and treatment to achieve physiological cerebrospinal fluid folate levels is emphasized.

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

May 2011

Volume

103

Issue

1

Start / End Page

33 / 37

Location

United States

Related Subject Headings

  • Young Adult
  • Proton-Coupled Folate Transporter
  • Pedigree
  • Mutation
  • Male
  • Malabsorption Syndromes
  • Humans
  • Hela Cells
  • HeLa Cells
  • Genotype
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Shin, D. S., Mahadeo, K., Min, S. H., Diop-Bove, N., Clayton, P., Zhao, R., & Goldman, I. D. (2011). Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. Mol Genet Metab, 103(1), 33–37. https://doi.org/10.1016/j.ymgme.2011.01.008
Shin, Daniel Sanghoon, Kris Mahadeo, Sang Hee Min, Ndeye Diop-Bove, Peter Clayton, Rongbao Zhao, and I David Goldman. “Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.Mol Genet Metab 103, no. 1 (May 2011): 33–37. https://doi.org/10.1016/j.ymgme.2011.01.008.
Shin DS, Mahadeo K, Min SH, Diop-Bove N, Clayton P, Zhao R, et al. Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. Mol Genet Metab. 2011 May;103(1):33–7.
Shin, Daniel Sanghoon, et al. “Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.Mol Genet Metab, vol. 103, no. 1, May 2011, pp. 33–37. Pubmed, doi:10.1016/j.ymgme.2011.01.008.
Shin DS, Mahadeo K, Min SH, Diop-Bove N, Clayton P, Zhao R, Goldman ID. Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. Mol Genet Metab. 2011 May;103(1):33–37.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

May 2011

Volume

103

Issue

1

Start / End Page

33 / 37

Location

United States

Related Subject Headings

  • Young Adult
  • Proton-Coupled Folate Transporter
  • Pedigree
  • Mutation
  • Male
  • Malabsorption Syndromes
  • Humans
  • Hela Cells
  • HeLa Cells
  • Genotype