A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

作者：Diop Bove N^*; Jain M; Scaglia F; Goldman I D

来源：Gene, 2013, 527(2): 673-674.

DOI：10.1016/j.gene.2013.06.039

• PCFT, proton-coupled folate transporter
• HCP1, heme carrier protein
• HEM, hereditary folate malabsorption
• Folates
• Intestinal folate transport
• Folate deficiency

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 1188 resulting in a frameshift with a premature stop.

• 出版日期2013-9-25