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SLC37A4-CDG: Second patient.

Matthew P Wilson1, Dulce Quelhas2, Elisa Leão-Teles3

  • 1Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium.

JIMD Reports
|March 17, 2021
PubMed
Summary
This summary is machine-generated.

The SLC37A4-CDG disorder, caused by a specific gene mutation, is confirmed in a second patient. This expands the known clinical features beyond liver issues to include diabetes and kidney disease.

Keywords:
CDGG6PT1SLC37A4glycogen storage diseaseglycosylationhepatopathy

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Area of Science:

  • Genetics and Molecular Biology
  • Metabolic Disorders
  • Pediatric Diseases

Background:

  • A rare genetic disorder, congenital disorder of glycosylation type II (CDG-II), is linked to mutations in the SLC37A4 gene.
  • The c.1267C>T (p.R423*) substitution in SLC37A4 causes glucose-6-phosphate transporter mislocalization, leading to CDG-II.
  • Previously, only one patient with SLC37A4-CDG was reported, exhibiting mild symptoms and liver disease that improved with age.

Purpose of the Study:

  • To confirm the pathogenicity of the heterozygous de novo c.1267C>T (p.R423*) mutation in SLC37A4.
  • To expand the clinical spectrum of SLC37A4-CDG.
  • To provide further insights into the mechanism and prognosis of this rare disorder.

Main Methods:

  • Clinical case reporting of the second patient diagnosed with SLC37A4-CDG.
  • Genetic analysis to identify the de novo c.1267C>T (p.R423*) mutation in SLC37A4.
  • Detailed clinical and biochemical evaluation of the patient.

Main Results:

  • The second patient presented with the same heterozygous de novo c.1267C>T (p.R423*) mutation in SLC37A4, confirming its pathogenicity.
  • The clinical presentation included type 1 diabetes, severe scoliosis, and membranoproliferative glomerulonephritis, expanding the known phenotype.
  • The findings suggest a broader range of clinical manifestations and potential complications associated with SLC37A4-CDG.

Conclusions:

  • The c.1267C>T (p.R423*) mutation in SLC37A4 is a confirmed cause of congenital disorder of glycosylation type II.
  • SLC37A4-CDG presents with a wider clinical spectrum than previously recognized, including metabolic and renal complications.
  • Further research is warranted to fully understand the pathophysiology and long-term prognosis of SLC37A4-CDG.