Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.
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.
Atabay
Berna
B
Clinics of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey.
Turker
Meral
M
Ozer
Esra Arun
EA
Mahadeo
Kris
K
Diop-Bove
Ndeye
N
Goldman
I David
ID
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
D058979:Proton-Coupled Folate Transporter; C505058:SLC46A1 protein, human; D005492:Folic Acid
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