A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

We report seven individuals who presented with liver dysfunction multifactorial coagulation deficiency and cardiac issues and were heterozygous for the same variant, c.1267C>T (p.Arg423 ∗), in SLC37A4; the affected individuals were from four unrelated families.

Source: The American Journal of Human Genetics - May 7, 2021 Category: Genetics & Stem Cells Authors: Bobby G. Ng, Paulina Sosicka, Fran çois Fenaille, Annie Harroche, Sandrine Vuillaumier-Barrot, Mindy Porterfield, Zhi-Jie Xia, Shannon Wagner, Michael J. Bamshad, Marie-Christine Vergnes-Boiteux, Sophie Cholet, Stephen Dalton, Anne Dell, Thierry Dupré, Tags: Article Source Type: research