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

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

Copyright © 2019 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 208(2019) vom: 01. Nov., Seite 108256
1. Verfasser: Tozawa, Yusuke (VerfasserIn)
Weitere Verfasser: 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
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2019
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Deep intronic mutation Hereditary folate malabsorption (HFM) Megaloblastic anemia Proton-coupled folate transporter (PCFT) SLC46A1 Proton-Coupled Folate Transporter SLC46A1 protein, human
Beschreibung
Zusammenfassung:Copyright © 2019 Elsevier Inc. All rights reserved.
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
Beschreibung:Date Completed 19.05.2020
Date Revised 07.12.2022
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2019.108256