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

作者：Meyer Esther; Kurian Manju A; Pasha Shanaz; Trembath Richard C; Cole Trevor; Maher Eamonn R^*

来源：Molecular Genetics and Metabolism, 2010, 99(3): 325-328.

DOI：10.1016/j.ymgme.2009.11.004

• Hereditary folate malabsorption
• PCFT
• SLC46A1
• Frameshift mutation
• Anemia

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 I 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.

• 出版日期2010-3