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

ABSTRACT: 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.

SUBMITTER: Diop-Bove N

PROVIDER: S-EPMC3836604 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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

Diop-Bove N N Jain M M Scaglia F F Goldman I D ID

Gene 20130628 2

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. ...[more]

PMID: 23816405

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Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.

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Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

Project description:RationaleHereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent infections, and neurological deficits. The neurological manifestations include progressive psychomotor retardation, behavioral disorders, and early-onset seizures.Patient concernsFrom early infancy, a Chinese boy had experienced macrocytic anemia, leukopenia, thrombocytopenia, recurrent pneumonia, diarrhea, and mouth ulcers. He also presented with progressive neurological symptoms.DiagnosisA novel mutation in the SLC46A1 gene was identified, and HFM was diagnosed at 18 months of age.InterventionsAfter the HFM diagnosis, the boy was treated with folinic acid.LessonsFolinic acid supplementation is effective and may offer life-changing therapy for patients with HFM.

| S-EPMC5815676 | biostudies-literature

Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1).

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| S-EPMC3468349 | biostudies-literature

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