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GYG2 – Glycogen Storage Disease II

The current evidence linking GYG2 to glycogen storage disease II (Pompe disease) is limited. In a multi‑patient study of 30 late‑onset Pompe disease patients (PMID:37185710), candidate genes related to glycogen synthesis and catabolism were analyzed and GYG2 was among those evaluated; however, no single variant in GYG2 showed a strong effect on the phenotype. There was no report of familial segregation or multiple unrelated probands harboring identical or clearly pathogenic alterations in GYG2 in these patients (PMID:37185710). Although a functional assessment study identified a missense change, c.665G>C (p.Trp222Ser), in GYG2 linked to Leigh syndrome (PMID:24100632), its pathogenicity in the context of Pompe disease remains unestablished. The absence of recurrent, functionally validated variants and robust segregation data further limits the clinical validity of this gene‑disease association. Key take‑home sentence: Additional targeted studies are needed before GYG2 can be reliably used for diagnostic decision‑making in Pompe disease.

References

  • Current issues in molecular biology • 2023 • Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) PMID:37185710
  • Human genetics • 2014 • A hemizygous GYG2 mutation and Leigh syndrome: a possible link? PMID:24100632

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

30 late‑onset Pompe disease patients were screened with no recurrent or segregating GYG2 variants identified (PMID:37185710).

Genetic Evidence

Limited

Candidate gene screening did not reveal clearly pathogenic GYG2 variants in Pompe disease, and familial segregation data were lacking (PMID:37185710).

Functional Evidence

Limited

While a functional study reported c.665G>C (p.Trp222Ser) in GYG2, this variant was associated with Leigh syndrome and its relevance to Pompe disease has not been established (PMID:24100632).