Wilson Matthew P, Quelhas Dulce, Leão-Teles Elisa, Sturiale Luisa, Rymen Daisy, Keldermans Liesbeth, Race Valérie, Souche Erika, Rodrigues Esmeralda, Campos Teresa, Van Schaftingen Emile, Foulquier François, Garozzo Domenico, Matthijs Gert, Jaeken Jaak
Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium.
Centro de Genetica Medica Jacinto de Magalhaes, Centro Hospitalar Universitário de São João Porto Portugal.
JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar.
Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in has been described. This causes mislocalization of the glucose-6-phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type II (SLC37A4-CDG). Only one patient has been reported showing liver disease that improved with age and mild dysmorphism. Here we report the second patient with a type II CDG caused by the same heterozygous de novo c.1267C>T (p.R423*) mutation thereby confirming the pathogenicity of this variant and expanding the clinical picture with type 1 diabetes, severe scoliosis, and membranoproliferative glomerulonephritis. Additional clinical and biochemical data provide further insight into the mechanism and prognosis of SLC37A4-CDG.
最近，已经描述了一种由 中杂合性新发的c.1267C>T（p.R423*）替代引起的疾病。这导致葡萄糖-6-磷酸转运蛋白错误定位到高尔基体，从而导致II型糖基化先天性疾病（SLC37A4-CDG）。仅报道了一名患者，其患有随年龄改善的肝病和轻度畸形。在此，我们报告了第二例由相同的杂合性新发c.1267C>T（p.R423*）突变引起的II型CDG患者，从而证实了该变体的致病性，并扩展了1型糖尿病、严重脊柱侧凸和膜增生性肾小球肾炎的临床症状。更多的临床和生化数据为SLC37A4-CDG的机制和预后提供了进一步的见解。
