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A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
Clinical Immunology ( IF 8.6 ) Pub Date : 2019-09-05 , DOI: 10.1016/j.clim.2019.108256
Yusuke Tozawa 1 , Shimaa Said Mohamed Ali Abdrabou 1 , Natsuko Nogawa-Chida 2 , Ritsuo Nishiuchi 3 , Toshiaki Ishida 4 , Yuichi Suzuki 5 , Hideki Sano 6 , Ryoji Kobayashi 7 , Kenji Kishimoto 7 , Osamu Ohara 8 , Kohsuke Imai 9 , Takuya Naruto 10 , Kunihiko Kobayashi 7 , Tadashi Ariga 11 , Masafumi Yamada 11
Affiliation  

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.

中文翻译:

四名与日本无关的遗传性叶酸吸收不良(HFM)患者与SLC46A1中c.1166-285 T> G的深度内含子突变有关。

遗传性叶酸吸收不良(HFM)是一种常染色体隐性遗传疾病,由编码质子偶联叶酸转运蛋白(PCFT)的SLC46A1突变引起。HFM患者表现出各种临床特征,包括巨幼细胞性贫血,血小板减少,合并的免疫缺陷和神经发育障碍。在这项研究中,我们报告了c.1166-285 T> G的相同的深度内含子突变,共有4名与日本无关的HFM患者共有。该突变被证明为内含子3序列的168 bp插入产生了一个隐秘的剪接供体位点,导致该插入过程的中途提前终止。该突变可能是日本人群中的奠基人突变,但也可能是一个热点,并且由于难以检测到该突变,可能会在全球范围内未经诊断的HFM患者中出现。
更新日期:2019-09-05
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