Open AccessSLC37A4‐CDG : Second patient
Author(s) -
Wilson Matthew P.,
Quelhas Dulce,
LeãoTeles 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
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12195
Subject(s) - membranoproliferative glomerulonephritis , compound heterozygosity , glycosylation , medicine , mutation , scoliosis , golgi apparatus , endocrinology , biology , genetics , glomerulonephritis , kidney , gene , surgery , endoplasmic reticulum
Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 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.