A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).

Abstract

Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT). HFM patients present with various clinical features including megaloblastic anemia, thrombocytopenia, combined immunodeficiency and neurodevelopmental disorders. In this study, we report the same deep intronic mutation of c.1166-285 T > G shared by four unrelated Japanese patients with HFM. This mutation was shown to generate a cryptic splice donor site for a 168-bp insertion of intron 3 sequences, leading to premature termination in the middle of this insertion. This mutation could be a founder mutation in the Japanese population, but also could be a hot-spot and could be present in undiagnosed HFM patients worldwide because of the difficulty to detect this mutation.

• Authors: Yusuke Tozawa, Shimaa Said Mohamed Ali Abdrabou, Natsuko Nogawa-Chida, Ritsuo Nishiuchi, Toshiaki Ishida, Yuichi Suzuki, Hideki Sano, Ryoji Kobayashi, Kenji Kishimoto, Osamu Ohara, Kohsuke Imai, Takuya Naruto, Kunihiko Kobayashi, Tadashi Ariga, Masafumi Yamada
• Journal: Clinical immunology (Orlando, Fla.) (Clin Immunol) Vol. 208 Pg. 108256 (11 2019) ISSN: 1521-7035 [Electronic] United States
• PMID: 31494288 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2019 Elsevier Inc. All rights reserved.

Chemical References

• Proton-Coupled Folate Transporter
• SLC46A1 protein, human

Topics

• Asian People (genetics)
• Female
• Folic Acid Deficiency (genetics)
• Humans
• Infant
• Malabsorption Syndromes (genetics)
• Male
• Mutation
• Proton-Coupled Folate Transporter (genetics)