Key result
TMEM165 mutations causing congenital glycosylation disorders are linked to congenital cardiomyopathies.
Why the study?
Mutations in the gene encoding HsTMEM165 are linked to congenital disorders of glycosylation, which often present with cardiomyopathies, warranting a review of TMEM165 pathogenicity.
This review highlights the potential involvement of HsTMEM165 variants in congenital cardiomyopathies and Congenital Disorders of Glycosylation.
No takes yet. Share an insight, caveat, or question.
TMEM165 variants merit research inclusion in cardiomyopathy gene panels; leaves open their causal role pending prospective validation.
Paula P. Gonçalves (2026) conducted a review in Congenital cardiomyopathies and Congenital Disorders of Glycosylation. Mutations in the TMEM165 gene, which cause congenital disorders of glycosylation, are proposed to play a potential role in the development of congenital cardiomyopathies.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: