TY - JOUR
T1 - A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption
AU - Diop-Bove, N.
AU - Jain, M.
AU - Scaglia, F.
AU - Goldman, I. D.
PY - 2013/9/25
Y1 - 2013/9/25
N2 - 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.
AB - 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.
KW - Folate deficiency
KW - Folates
KW - HCP1, heme carrier protein
KW - HFM, hereditary folate malabsorption
KW - Intestinal folate transport
KW - PCFT, proton-coupled folate transporter
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U2 - 10.1016/j.gene.2013.06.039
DO - 10.1016/j.gene.2013.06.039
M3 - Article
C2 - 23816405
AN - SCOPUS:84881549110
SN - 0378-1119
VL - 527
SP - 673
EP - 674
JO - Gene
JF - Gene
IS - 2
ER -