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

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• 作者：N. Diop-Bove ; M. Jain ; F. Scaglia ; I.D. Goldman
• 关键词：HFM ; hereditary folate malabsorption ; PCFT ; proton-coupled folate transporter ; CSF ; cerebrospinal fluid
• 刊名：Gene
• 出版年：2013
• 出版时间：25 September, 2013
• 年：2013
• 卷：527
• 期：2
• 页码：673-674
• 全文大小：143 K

文摘

Hereditary folate malabsorption (OMIM ) 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.