title: Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.
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.
authors.affiliation: Clinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey.
authors.forename: Berna
authors.initials: B
authors.lastname: Atabay
authors.forename: Meral
authors.initials: M
authors.lastname: Turker
authors.forename: Esra Arun
authors.initials: EA
authors.lastname: Ozer
authors.forename: Kris
authors.initials: K
authors.lastname: Mahadeo
authors.forename: Ndeye
authors.initials: N
authors.lastname: Diop-Bove
authors.forename: I David
authors.initials: ID
authors.lastname: Goldman
mesh_terms: D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D058979:Proton-Coupled Folate Transporter / Q000235:genetics*; D035781:Siblings; D014421:Turkey
chemical_list: D058979:Proton-Coupled Folate Transporter; C505058:SLC46A1 protein, human; D005492:Folic Acid
references.citation: Adv Drug Deliv Rev. 2004 Apr 29;56(8):1085-97
references.pmid: 15094208
references.citation: Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5299-305
references.pmid: 17962486
references.citation: J Biol Chem. 2009 Feb 13;284(7):4267-74
references.pmid: 19074442
references.citation: J Inherit Metab Dis. 2001 Dec;24(7):749-50
references.pmid: 11804211
references.citation: J Biol Chem. 2009 Jun 26;284(26):17846-57
references.pmid: 19389703
references.citation: Clin Immunol. 2009 Dec;133(3):287-94
references.pmid: 19740703
references.citation: J Pediatr. 1981 Jan;98(1):76-9
references.pmid: 6969796
references.citation: Cell. 2005 Sep 9;122(5):789-801
references.pmid: 16143108
references.citation: Medicine (Baltimore). 2002 Jan;81(1):51-68
references.pmid: 11807405
references.citation: Blood. 2008 Sep 1;112(5):2055-61
references.pmid: 18559978
references.citation: J Neurochem. 2008 Mar;104(6):1494-503
references.pmid: 18086128
references.citation: Pediatrics. 1999 Nov;104(5 Pt 1):1133-7
references.pmid: 10545560
references.citation: Cell. 2006 Dec 1;127(5):917-28
references.pmid: 17129779
references.citation: J Pediatr. 1996 Dec;129(6):948
references.pmid: 8969750
references.citation: J Pediatr. 2008 Sep;153(3):435-7
references.pmid: 18718264
references.citation: Am J Physiol Cell Physiol. 2009 Jul;297(1):C66-74
references.pmid: 19403800
references.citation: Am J Physiol Cell Physiol. 2007 Nov;293(5):C1669-78
references.pmid: 17898134
references.citation: Blood. 2007 Aug 15;110(4):1147-52
references.pmid: 17446347