The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

• Published in: Blood Vol. 110; no. 4; pp. 1147 - 1152
• Main Authors: Zhao, Rongbao, Min, Sang Hee, Qiu, Andong, Sakaris, Antoinette, Goldberg, Gary L., Sandoval, Claudio, Malatack, J. Jeffrey, Rosenblatt, David S., Goldman, I. David
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 15.08.2007; The Americain Society of Hematology; American Society of Hematology
• Series: Hematopoiesis
• Subjects: Amino Acid Sequence; Biological and medical sciences; Blotting, Northern; Blotting, Western; Case-Control Studies; Child, Preschool; DNA Mutational Analysis; Female; Fluorescent Antibody Technique; Folic Acid - metabolism; Gastroenterology. Liver. Pancreas. Abdomen; HeLa Cells; Hematologic and hematopoietic diseases; Hematopoiesis; Heterozygote; Humans; Infant; Intestinal Mucosa - metabolism; Lymphocytes - drug effects; Lymphocytes - metabolism; Malabsorption Syndromes - genetics; Male; Medical sciences; Membrane Transport Proteins - genetics; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Other diseases. Semiology; Pedigree; Polymerase Chain Reaction; Proton-Coupled Folate Transporter; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Sequence specificity; Gene; Hematology; Digestive system; Intestinal malabsorption; Digestive diseases; Intestinal disease; Genetics; Hereditary; Folate

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption and impaired folate transport into the central nervous system. Recent studies in 1 family revealed that the molecular basis for this disorder is a loss-of-function mutation in...