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SLC37A4-CDG: Second patient.

ABSTRACT: 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.

SUBMITTER: Wilson MP

PROVIDER: S-EPMC7932867 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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SLC37A4-CDG: Second patient.

Wilson Matthew P MP Quelhas Dulce D Leão-Teles Elisa E Sturiale Luisa L Rymen Daisy D Keldermans Liesbeth L Race Valérie V Souche Erika E Rodrigues Esmeralda E Campos Teresa T Van Schaftingen Emile E Foulquier François F Garozzo Domenico D Matthijs Gert G Jaeken Jaak J

JIMD reports 20210106 1

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*) mutat ...[more]

PMID: 33728255

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