Marquardt Thorsten, Bzduch Vladimir, Hogrebe Max, Rust Stephan, Reunert Janine, Grüneberg Marianne, Park Julien, Callewaert Nico, Lachmann Robin, Wada Yoshinao, Engel Thomas
University Children's Hospital Münster, Department of General Pediatrics, Münster, Germany.
Comenius University, National Institute of Children's Diseases, Department of Paediatrics, Limbová 1, 83340 Bratislava, Slovakia.
Mol Genet Metab Rep. 2020 Aug 21;25:100636. doi: 10.1016/j.ymgmr.2020.100636. eCollection 2020 Dec.
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease.
葡萄糖-6-磷酸转运体的功能丧失是由SLC37A4基因的双等位基因突变引起的，可导致糖原贮积病Ib型。在此，我们描述了由同一基因的单一显性突变引起的第二种疾病。该突变消除了转运体的内质网保留信号，并产生了一个较弱的高尔基体保留信号。转运体的细胞内定位错误导致糖基化先天性疾病，而非糖原贮积病。
