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SLC37A4‐CDG : Second patient

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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, Francois | Garozzo, Domenico | Matthijs, Gert | Jaeken, Jaak

Edité par CCSD ; Springer -

International audience. 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.

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