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

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2019
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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.
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tozawa2019aclinical Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Tozawa, Yusuke;Abdrabou, Shimaa Said Mohamed Ali;Nogawa-Chida, Natsuko;Nishiuchi, Ritsuo;Ishida, Toshiaki;Suzuki, Yuichi;Sano, Hideki;Kobayashi, Ryoji;Kishimoto, Kenji;Ohara, Osamu;Imai, Kohsuke;Naruto, Takuya;Kobayashi, Kunihiko;Ariga, Tadashi;Yamada, Masafumi;
Journal clinical immunology (orlando, fla)
Year 2019
DOI
S1521-6616(19)30241-4
URL
Keywords
deep intronic mutation hereditary folate malabsorption (hfm) megaloblastic anemia proton-coupled folate transporter (pcft) slc46a1

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