Journal
CLINICAL IMMUNOLOGY
Volume 208, Issue -, Pages -Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2019.108256
Keywords
Hereditary folate malabsorption (HFM); SLC46A1; Proton-coupled folate transporter (PCFT); Megaloblastic anemia; Deep intronic mutation
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Funding
- JSPS KAKENHI [JP16K20871]
- Japanese Ministry of Health, Labor and Welfare
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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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