SLC37A4-CDG: Second patient.
(2021) JIMD reports — Vol. 58, n° 1, p. 122-128 (2021)
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- Authors
Wilson, Matthew P 
Van Schaftingen, Emile
- Abstract
- 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.
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Citations
Wilson, M. P., Quelhas, D., Leão-Teles, E., Sturiale, L., Rymen, D., Keldermans, L., Race, V., Souche, E., Rodrigues, E., Campos, T., Van Schaftingen, E., Foulquier, F., Garozzo, D., Matthijs, G., & Jaeken, J. (2021). SLC37A4-CDG: Second patient. JIMD reports, 58(1), 122-128. https://doi.org/10.1002/jmd2.12195 (Original work published 2021)