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A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Esther Meyer¹, Manju A Kurian, Shanaz Pasha

¹Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK. e.meyer@bham.ac.uk

Molecular Genetics and Metabolism

|December 17, 2009

Summary

Hereditary folate malabsorption (HFM) is a rare genetic disorder. This study identified a new mutation in the PCFT gene in a Pakistani family, expanding knowledge of HFM

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Published on: April 4, 2018

Area of Science:

Genetics
Molecular Biology
Pediatrics

Background:

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder.
It involves impaired intestinal folate absorption and central nervous system folate transport.
Mutations in the folate transporter PCFT gene are implicated.

Purpose of the Study:

To describe the clinical phenotype of HFM in a consanguineous Pakistani family.
To determine the molecular basis of HFM in four affected individuals.
To expand the understanding of PCFT mutations and HFM manifestations.

Main Methods:

Clinical phenotyping of four affected individuals from a Pakistani family.
Genetic linkage studies to identify the disease-causing gene.
Direct sequencing of all coding exons of the PCFT gene to detect mutations.

Main Results:

A novel homozygous frameshift mutation (c.194dupG) was identified in the PCFT gene.
This mutation is located in exon 1 and results in a truncated protein (p.Cys66LeufsX99).
The clinical phenotype of the four affected patients was described.

Conclusions:

The identified mutation expands the known spectrum of PCFT mutations in HFM.
This study contributes to a better understanding of HFM's clinical and molecular basis.
Further research into PCFT gene mutations is warranted for HFM diagnosis and treatment.