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

Meyer, Esther and Kurian, Manju A. and Pasha, Shanaz and Trembath, Richard C. and Cole, Trevor and Maher, Eamonn R. (2010) A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. Molecular Genetics and Metabolism, 99 (3). p. 325. ISSN 10967192

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URL of Published Version: http://dx.doi.org/10.1016/j.ymgme.2009.11.004

Identification Number/DOI: doi:10.1016/j.ymgme.2009.11.004

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system. Mutations in the intestinal folate transporter PCFT have been reported previously in only 10 individuals with this disorder. The purpose of the current study was to describe the clinical phenotype and determine the molecular basis for this disorder in a family with four affected individuals. A consanguineous family of Pakistani origin with autosomal recessive HFM was ascertained and clinically phenotyped. After genetic linkage studies all coding exons of the PCFT gene were screened for mutations by direct sequencing.

The clinical phenotype of four affected patients is described. Direct sequencing of PCFT revealed a novel homozygous frameshift mutation (c.194dupG) at a mononucleotide repeat in exon 1 predicted to result in a truncated protein (p.Cys66LeufsX99). This report extends current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum.

Type of Work:Article
Date:2010 (Publication)
School/Faculty:Colleges (2008 onwards) > College of Medical & Dental Sciences
Department:Department of Medical and Molecular Genetics
Subjects:R Medicine (General)
Institution:University of Birmingham
Copyright Holders:Elsevier Inc
ID Code:319
Refereed:YES
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